(used for variant description)
(last modified July 4, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_006059.3 in the LAMC3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029800.1, covering LAMC3 transcript NM_006059.3.
(upstream sequence)
. . . g.5038
ccccgcaggggaaggcgggtcctggcggccagcgcgcg c.-61
. . . . . . g.5098
gtccgcgcccaccctagccgagcggggccggcagagcgcgcggcgtcggtgcccttgacc c.-1
. . . . . . g.5158
ATGGCGGCGGCTGCGCTTCTGCTGGGGCTGGCGCTGCTGGCACCGCGGGCGGCCGGCGCG c.60
M A A A A L L L G L A L L A P R A A G A p.20
. . . . . . g.5218
GGCATGGGCGCGTGCTATGACGGCGCAGGGCGCCCGCAGCGCTGCCTGCCGGTGTTCGAG c.120
G M G A C Y D G A G R P Q R C L P V F E p.40
. . . . . . g.5278
AACGCGGCGTTTGGGCGGCTCGCCCAGGCCTCGCACACGTGCGGCAGCCCGCCCGAGGAC c.180
N A A F G R L A Q A S H T C G S P P E D p.60
. . . . . . g.5338
TTCTGTCCCCACGTGGGCGCCGCGGGCGCGGGGGCTCATTGCCAGCGCTGCGACGCCGCC c.240
F C P H V G A A G A G A H C Q R C D A A p.80
. . . . . . g.5398
GACCCCCAGCGCCACCACAACGCCTCCTACCTCACCGACTTCCACAGCCAGGACGAGAGC c.300
D P Q R H H N A S Y L T D F H S Q D E S p.100
. . . . . . g.5458
ACCTGGTGGCAGAGCCCGTCCATGGCCTTCGGCGTGCAGTACCCCACCTCGGTCAACATC c.360
T W W Q S P S M A F G V Q Y P T S V N I p.120
. | 02 . . . . . g.22215
ACCCTCCGCCTAG | GGAAGGCTTATGAGATCACGTATGTGAGGCTGAAGTTCCACACCAGT c.420
T L R L G | K A Y E I T Y V R L K F H T S p.140
. . . . . . g.22275
CGCCCTGAGAGCTTTGCCATCTACAAGCGCAGCCGCGCCGACGGCCCATGGGAGCCCTAC c.480
R P E S F A I Y K R S R A D G P W E P Y p.160
. . . . . . g.22335
CAGTTCTACAGCGCCTCCTGCCAGAAGACCTACGGCCGGCCCGAGGGCCAGTACCTGCGC c.540
Q F Y S A S C Q K T Y G R P E G Q Y L R p.180
. . . . . . g.22395
CCCGGCGAGGACGAGCGCGTGGCCTTCTGCACCTCTGAGTTCAGCGACATCTCCCCGCTG c.600
P G E D E R V A F C T S E F S D I S P L p.200
. . . . . . g.22455
AGTGGCGGCAACGTGGCCTTCTCCACCCTGGAGGGCCGGCCCAGCGCCTACAACTTCGAG c.660
S G G N V A F S T L E G R P S A Y N F E p.220
. | 03 . . . . g.27970
GAGAGCCCTGGGCTGCAG | GAGTGGGTCACCAGCACCGAACTCCTCATCTCTCTAGACCGG c.720
E S P G L Q | E W V T S T E L L I S L D R p.240
. . . . . . g.28030
CTCAACACGTTTGGGGACGACATCTTCAAGGACCCCAAGGTGCTCCAGTCCTACTATTAT c.780
L N T F G D D I F K D P K V L Q S Y Y Y p.260
. . | 04 . . . g.32080
GCCGTGTCCGACTTCTCTGTGGGCGGCAG | GTGCAAGTGCAACGGGCATGCCAGCGAGTGC c.840
A V S D F S V G G R | C K C N G H A S E C p.280
. . . . . . g.32140
GGCCCCGACGTGGCAGGCCAGTTGGCCTGCCGGTGCCAGCACAACACCACCGGCACAGAC c.900
G P D V A G Q L A C R C Q H N T T G T D p.300
. . . . . . g.32200
TGTGAGCGCTGCCTGCCCTTCTTCCAGGACCGCCCGTGGGCCCGGGGCACCGCCGAGGCT c.960
C E R C L P F F Q D R P W A R G T A E A p.320
. | 05 . . . . . g.34791
GCCCACGAGTGTCTGC | CCTGCAACTGCAGTGGCCGCTCCGAGGAATGCACGTTTGATCGG c.1020
A H E C L P | C N C S G R S E E C T F D R p.340
. . . . . . g.34851
GAGCTCTTCCGCAGCACAGGCCACGGCGGGCGCTGTCACCACTGCCGTGACCACACAGCT c.1080
E L F R S T G H G G R C H H C R D H T A p.360
. . . . . . g.34911
GGGCCACACTGTGAGCGCTGTCAGGAGAATTTCTATCACTGGGACCCGCGGATGCCATGC c.1140
G P H C E R C Q E N F Y H W D P R M P C p.380
. . | 06 . . . . g.35049
CAGCCCTGTGACTGCCAGTCGGCAG | GCTCCCTACACCTCCAGTGCGATGACACAGGCACC c.1200
Q P C D C Q S A G | S L H L Q C D D T G T p.400
. . . . . . g.35109
TGCGCCTGCAAGCCCACGGTGACTGGCTGGAAGTGTGACCGCTGTCTGCCCGGGTTCCAC c.1260
C A C K P T V T G W K C D R C L P G F H p.420
. . | 07 . . . . g.37557
TCGCTCAGTGAGGGAGGCTGCAG | ACCCTGCACTTGCAATCCCGCTGGCAGCCTGGACACC c.1320
S L S E G G C R | P C T C N P A G S L D T p.440
. . . . . . g.37617
TGTGACCCCCGCAGTGGGCGCTGCCCCTGCAAAGAGAATGTGGAAGGCAACCTATGTGAC c.1380
C D P R S G R C P C K E N V E G N L C D p.460
| 08 . . . . . . g.41465
AG | ATGTCGCCCGGGGACCTTTAACCTGCAGCCCCACAATCCAGCTGGCTGCAGCAGCTGT c.1440
R | C R P G T F N L Q P H N P A G C S S C p.480
. . . . . . g.41525
TTCTGCTATGGCCACTCCAAGGTGTGCGCGTCCACTGCCCAGTTCCAGGTGCATCACATC c.1500
F C Y G H S K V C A S T A Q F Q V H H I p.500
. | 09 . . . . g.44944
CTCAGCGATTTCCACCAGG | GAGCCGAAGGCTGGTGGGCCAGAAGTGTGGGGGGCTCTGAG c.1560
L S D F H Q G | A E G W W A R S V G G S E p.520
. . . . . . g.45004
CACCCCCCACAATGGAGCCCAAATGGGGTCCTCCTGAGCCCAGAAGACGAGGAGGAGCTC c.1620
H P P Q W S P N G V L L S P E D E E E L p.540
. | 10 . . . . . g.48424
ACAGCACCAG | AGAAGTTCCTGGGAGACCAGCGGTTCAGCTATGGGCAGCCCCTCATACTG c.1680
T A P E | K F L G D Q R F S Y G Q P L I L p.560
. . . . . . g.48484
ACCTTCCGGGTGCCCCCCGGGGACTCCCCACTCCCTGTACAGCTGAGGCTGGAAGGGACA c.1740
T F R V P P G D S P L P V Q L R L E G T p.580
. . . . . . g.48544
GGCTTGGCCCTGTCCCTGAGGCACTCTAGCCTGTCTGGCCCCCAGGATGCCGGGCATCCC c.1800
G L A L S L R H S S L S G P Q D A G H P p.600
. . | 11 . . . . g.48770
AGGGAGGTAGAGCTCAGGTTCCA | CCTGCAGGAGACCTCCGAGGACGTGGCCCCTCCACTG c.1860
R E V E L R F H | L Q E T S E D V A P P L p.620
. . . . . . g.48830
CCCCCCTTCCACTTCCAGCGGCTCCTCGCCAACCTGACCAGCCTCCGCCTCCGCGTCAGT c.1920
P P F H F Q R L L A N L T S L R L R V S p.640
. | 12 . . . . g.52853
CCCGGCCCCAGCCCTGCCG | GTCCAGTGTTCCTGACTGAGGTCCGGCTCACATCCGCCCGG c.1980
P G P S P A G | P V F L T E V R L T S A R p.660
. . . . . . g.52913
CCAGGGCTTTCCCCGCCAGCCTCCTGGGTGGAGATTTGTTCATGTCCCACTGGCTACACG c.2040
P G L S P P A S W V E I C S C P T G Y T p.680
. . . . . . g.52973
GGCCAGTTCTGTGAATCCTGTGCTCCGGGATACAAGAGGGAGATGCCACAGGGGGGTCCC c.2100
G Q F C E S C A P G Y K R E M P Q G G P p.700
. . . . . | 13 g.56920
TATGCCAGCTGTGTCCCCTGCACCTGTAACCAGCATGGCACCTGTGACCCCAACACAG | GG c.2160
Y A S C V P C T C N Q H G T C D P N T G | p.720
. . . . . . g.56980
ATCTGTGTCTGCAGCCACCATACCGAGGGCCCATCCTGTGAACGCTGTTTGCCAGGTTTC c.2220
I C V C S H H T E G P S C E R C L P G F p.740
. . . . . . g.57040
TATGGCAACCCTTTCGCGGGCCAAGCCGACGACTGCCAGCCCTGTCCCTGCCCTGGCCAG c.2280
Y G N P F A G Q A D D C Q P C P C P G Q p.760
. . . . . . g.57100
TCGGCCTGTACGACCATCCCAGAGAGCCGGGAGGTGGTGTGTACCCACTGCCCCCCGGGC c.2340
S A C T T I P E S R E V V C T H C P P G p.780
| 14. . . . . . g.62896
CAGAGAG | GGCGGCGCTGTGAGGTCTGTGATGATGGCTTTTTTGGGGACCCGCTGGGGCTC c.2400
Q R G | R R C E V C D D G F F G D P L G L p.800
. . . . . . g.62956
TTTGGGCACCCCCAGCCCTGCCACCAGTGCCAGTGTAGCGGGAACGTGGACCCCAATGCC c.2460
F G H P Q P C H Q C Q C S G N V D P N A p.820
. . . . . . g.63016
GTGGGCAACTGTGACCCCCTGTCTGGCCACTGCCTGCGCTGCCTGCACAACACCACGGGT c.2520
V G N C D P L S G H C L R C L H N T T G p.840
. . . . . . g.63076
GACCACTGTGAGCACTGTCAGGAAGGCTTCTACGGGAGCGCCCTGGCCCCTCGACCCGCA c.2580
D H C E H C Q E G F Y G S A L A P R P A p.860
. | 15 . . . . . g.64008
GACAAATGCATGC | CTTGCAGCTGTCACCCACAGGGCTCGGTCAGTGAGCAGATGCCCTGC c.2640
D K C M P | C S C H P Q G S V S E Q M P C p.880
. . . . . . g.64068
GACCCAGTGACAGGCCAATGCTCCTGCCTGCCTCATGTGACTGCACGGGACTGCAGCCGC c.2700
D P V T G Q C S C L P H V T A R D C S R p.900
. . . . | 16. . g.64804
TGCTACCCTGGCTTCTTCGACCTCCAGCCTGGGAGGGGCTGCCGGAG | CTGCAAGTGTCAC c.2760
C Y P G F F D L Q P G R G C R S | C K C H p.920
. . . . . . g.64864
CCACTGGGCTCCCAGGAGGACCAGTGCCATCCCAAGACTGGACAGTGCACCTGCCGCCCA c.2820
P L G S Q E D Q C H P K T G Q C T C R P p.940
. . . . . . g.64924
GGTGTCACAGGCCAGGCCTGTGACAGGTGCCAGCTGGGTTTCTTCGGCTTCTCCATCAAG c.2880
G V T G Q A C D R C Q L G F F G F S I K p.960
. | 17 . . . . . g.65605
GGCTGCCGGG | CCTGCAGGTGCTCCCCACTGGGCGCTGCCTCGGCCCAGTGCCACGAGAAC c.2940
G C R A | C R C S P L G A A S A Q C H E N p.980
. . . . . . g.65665
GGCACATGCGTGTGCAGGCCTGGCTTCGAGGGCTACAAATGTGACCGCTGCCACGACAAC c.3000
G T C V C R P G F E G Y K C D R C H D N p.1000
. . . . . . g.65725
TTCTTCCTCACGGCAGACGGCACACACTGCCAGCAATGTCCGTCCTGCTACGCCCTGGTG c.3060
F F L T A D G T H C Q Q C P S C Y A L V p.1020
| 18 . . . . . g.67418
AAGGAGGAG | GCAGCCAAGCTGAAGGCCAGACTGACTTTGACGGAGGGGTGGCTCCAAGGG c.3120
K E E | A A K L K A R L T L T E G W L Q G p.1040
. . . . . . g.67478
TCCGACTGTGGCAGTCCCTGGGGACCACTAGACATTCTGCTGGGAGAGGCCCCAAGGGGG c.3180
S D C G S P W G P L D I L L G E A P R G p.1060
. . . | 19 . . . g.68542
GACGTCTACCAGGGCCATCACCTGCTTCCAG | GGGCTCGGGAAGCCTTCCTGGAGCAGATG c.3240
D V Y Q G H H L L P G | A R E A F L E Q M p.1080
. . . . . . g.68602
ATGAGCCTCGAGGGTGCTGTCAAGGCCGCCCGGGAGCAGCTGCAGAGGCTGAACAAGGGT c.3300
M S L E G A V K A A R E Q L Q R L N K G p.1100
. . . . . . g.68662
GCCCGCTGTGCCCAGGCCGGATCCCAGAAGACCTGCACCCAGCTGGCAGACCTGGAGGCA c.3360
A R C A Q A G S Q K T C T Q L A D L E A p.1120
. . . . . | 20. g.69131
GTGCTGGAGTCCTCGGAAGAGGAGATTCTGCATGCAGCTGCCATTCTCGCGTCTCTG | GAG c.3420
V L E S S E E E I L H A A A I L A S L | E p.1140
. . . . . . g.69191
ATTCCTCAGGAAGGTCCCAGTCAGCCGACCAAATGGAGCCACCTGGCCACAGAGGCCCGT c.3480
I P Q E G P S Q P T K W S H L A T E A R p.1160
. | 21 . . . . . g.71760
GCCCTCGCCAGGAG | CCACAGAGACACCGCCACCAAGATCGCAGCCACTGCTTGGAGGGCC c.3540
A L A R S | H R D T A T K I A A T A W R A p.1180
. . . . . . g.71820
CTGCTCGCCTCCAACACCAGCTACGCGCTTCTCTGGAATCTGCTGGAGGGAAGGGTGGCC c.3600
L L A S N T S Y A L L W N L L E G R V A p.1200
. . | 22 . . . g.73101
CTAGAGACCCAGCGGGACCTGGAGGACAG | GTACCAGGAGGTCCAGGCGGCCCAGAAAGCA c.3660
L E T Q R D L E D R | Y Q E V Q A A Q K A p.1220
. . . . . . g.73161
CTGAGGACGGCTGTGGCAGAGGTGCTGCCTGAAGCGGAAAGCGTGTTGGCCACCGTGCAG c.3720
L R T A V A E V L P E A E S V L A T V Q p.1240
. . . . . | 23. g.75035
CAAGTTGGCGCAGATACAGCCCCGTACCTGGCCTTGCTGGCTTCCCCGGGAGCTCTG | CCT c.3780
Q V G A D T A P Y L A L L A S P G A L | P p.1260
. . . . . . g.75095
CAGAAGTCCCGGGCTGAAGACCTGGGCCTGAAGGCGAAGGCCCTGGAGAAGACAGTTGCA c.3840
Q K S R A E D L G L K A K A L E K T V A p.1280
. . . . . . g.75155
TCATGGCAGCACATGGCCACTGAGGCTGCCCGAACCCTCCAGACTGCTGCCCAGGCGACG c.3900
S W Q H M A T E A A R T L Q T A A Q A T p.1300
. . | 24. . . . g.77975
CTACGGCAAACAGAACCCCTCACAAAG | CTGCACCAGGAGGCCAGAGCCGCCCTGACCCAG c.3960
L R Q T E P L T K | L H Q E A R A A L T Q p.1320
. . . . . . g.78035
GCTTCCTCATCTGTCCAGGCTGCGACAGTGACTGTCATGGGAGCCAGGACTCTGCTGGCT c.4020
A S S S V Q A A T V T V M G A R T L L A p.1340
. | 25 . . . . . g.81457
GATCTGGAAG | GAATGAAGCTGCAGTTTCCCCGGCCCAAGGACCAGGCGGCATTGCAGAGG c.4080
D L E G | M K L Q F P R P K D Q A A L Q R p.1360
. . . . . . g.81517
AAGGCAGACTCCGTCAGTGACAGACTCCTTGCAGACACGAGAAAGAAGACCAAGCAGGCG c.4140
K A D S V S D R L L A D T R K K T K Q A p.1380
. . . . . . g.81577
GAGAGGATGCTGGGAAACGCGGCCCCTCTTTCCTCCAGTGCCAAGAAGAAGGGCAGAGAA c.4200
E R M L G N A A P L S S S A K K K G R E p.1400
. . . | 26 . . . g.83389
GCAGAGGTGTTGGCCAAGGACAGTGCCAAG | CTTGCCAAGGCCTTGCTGAGGGAGCGGAAA c.4260
A E V L A K D S A K | L A K A L L R E R K p.1420
. . . . . . g.83449
CAGGCGCACCGCCGTGCCAGCAGGCTCACCAGCCAGACGCAAGCCACGCTCCAACAGGCG c.4320
Q A H R R A S R L T S Q T Q A T L Q Q A p.1440
. . . . . | 27. g.83604
TCCCAGCAGGTGCTGGCGTCTGAAGCACGCAGACAGGAGCTGGAGGAAGCTGAGCGG | GTG c.4380
S Q Q V L A S E A R R Q E L E E A E R | V p.1460
. . . . . . g.83664
GGTGCTGGGCTGAGCGAGATGGAGCAGCAGATCCGGGAATCGCGTATCTCACTGGAGAAG c.4440
G A G L S E M E Q Q I R E S R I S L E K p.1480
. . . | 28. . . g.87443
GACATCGAGACCTTGTCAGAGCTGCTTGCCAGGCTGG | GGTCGCTGGACACCCATCAAGCC c.4500
D I E T L S E L L A R L G | S L D T H Q A p.1500
. . . . . . g.87503
CCAGCCCAGGCCCTGAACGAGACTCAGTGGGCACTAGAACGCCTGAGGCTGCAGCTGGGC c.4560
P A Q A L N E T Q W A L E R L R L Q L G p.1520
. . . . . . g.87563
TCCCCGGGGTCCTTGCAGAGGAAACTCAGTCTGCTGGAGCAGGAATCCCAGCAGCAGGAG c.4620
S P G S L Q R K L S L L E Q E S Q Q Q E p.1540
. . . . . . g.87623
CTGCAGATCCAGGGCTTCGAGAGTGACCTCGCCGAGATCCGCGCCGACAAACAGAACCTG c.4680
L Q I Q G F E S D L A E I R A D K Q N L p.1560
. . . . g.87671
GAGGCCATTCTGCACAGCCTGCCCGAGAACTGTGCCAGCTGGCAGTGA c.4728
E A I L H S L P E N C A S W Q X p.1575
. . . . . . g.87731
gggctgcccagatccccggcacacactcccccacctgctgtttacatgacccagggggtg c.*60
. . . . . . g.87791
cacactaccccacaggtgtgcccatacagacattccccggagccggctgctgtgaactcg c.*120
. . . . . . g.87851
cccccgtgtggatagtcactccctgccgattctgtctgtggcttcttccctgccagcagg c.*180
. . . . . . g.87911
actgagtgtgcgtacccagttcacctggacatgagtgcacactctcacccctgcacatgc c.*240
. . . . . . g.87971
ataaacgggcacaccccagtgtcaataacatacacacgtgagggtgcatgtctgtgtgta c.*300
. . . . . . g.88031
tgacccacacgtgttcaagtctaatccatccagtcagcagcttacggtccacacacatta c.*360
. . . . . . g.88091
cagtccacagctgttgtgagagccacctgtgtgctggacaccctctggatgttgggcaag c.*420
. . . . . . g.88151
ttgttacatgagatgccctggggtgctacatccactcactccagatagcagggaggtctc c.*480
. . . . . . g.88211
agcagatctgcagagatcaagggggtcagcaacagccaaagcccctagtcccagagctgg c.*540
. . . . . . g.88271
ctgccctctgtttcacagcagctccctgacctgtgttgctgcgtgcactccctacagctc c.*600
. . . . . . g.88331
gacacagccaggggaccaacaggccaagaaatgcaagatcccgggagggttcttagcagc c.*660
. . . . . . g.88391
agaatctgaggcccagagaccctgaggccgtggccaggcctgctagtctggctagagcaa c.*720
. . . . . . g.88451
ggcccattcctggcgggggtgtcattgccttcaccggacgcttccctctcagggtcctgg c.*780
. . . . . . g.88511
gactgcaccagatgccctgagggaatggcccaccctggcctgtacccacttcagcctgtg c.*840
. . . . . . g.88571
atctatccaaagagccaggcccaaaagcgcctaggtcagggtgctcaggctaccaggagc c.*900
. . . . . . g.88631
acgcctctgtgcccccggcaacccagttgacctttaattgacgctttccagaccagccct c.*960
. . . . . . g.88691
gcggcaccacttgccatgcgggaggccaccagggtgtgcaagcctggctgccattccagt c.*1020
. . . . . . g.88751
ctgtcctgtctgggaatcgccctgtggccaggcccgcatgctggcctctgcccaggactc c.*1080
. . . . . . g.88811
ctcagcatttcctcttggcatccctcccctctcccagaccctcttccagcagatggcaag c.*1140
. . . . . . g.88871
gcctcggcattgggaagtcaggcacctctgcgggcccagccccctcccgtggctcccctg c.*1200
. . . . . . g.88931
acaggggcaggggtagggcagcagcacagaccaattccgttgaacgtggaaataaaggac c.*1260
. g.88943
cctttcactggg c.*1272
(downstream sequence)
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