(used for variant description)
(last modified February 10, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001794.3 in the CDH4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000020.10, covering CDH4 transcript NM_001794.3.
(upstream sequence)
. . g.5028
agcggcggcggtggtctcggcggcggcg c.-61
. . . . . . g.5088
gcggcggcggcggcagggagcgggctcccggtgccgggcaccgggcgggcggcggggaag c.-1
. . . . . | 02. g.7403
ATGACCGCGGGCGCCGGCGTGCTCCTTCTGCTGCTCTCGCTCTCCGGCGCGCTCCGG | GCC c.60
M T A G A G V L L L L L S L S G A L R | A p.20
. . . . . . g.7463
CATAATGAGGATCTTACAACTAGAGAGACCTGCAAGGCTGGGTTCTCTGAAGATGATTAC c.120
H N E D L T T R E T C K A G F S E D D Y p.40
. . . . | 03 . g.496148
ACGGCATTAATCTCCCAAAATATTCTAGAAGGGGAAAAGCTACTTCAAG | TCAAGTTCAGC c.180
T A L I S Q N I L E G E K L L Q V | K F S p.60
. . . . . . g.496208
AGCTGTGTGGGGACCAAGGGGACACAATATGAGACCAACAGCATGGACTTCAAAGTTGGG c.240
S C V G T K G T Q Y E T N S M D F K V G p.80
. . . . . . g.496268
GCAGATGGGACAGTCTTCGCCACCCGGGAGCTGCAGGTCCCCTCCGAGCAGGTGGCGTTC c.300
A D G T V F A T R E L Q V P S E Q V A F p.100
. . . . . . g.496328
ACGGTGACTGCATGGGACAGCCAGACAGCAGAGAAATGGGACGCCGTGGTGCGGTTGCTG c.360
T V T A W D S Q T A E K W D A V V R L L p.120
. . . | 04 . . . g.525601
GTGGCCCAGACCTCGTCCCCGCACTCTGGACACAAG | CCGCAGAAAGGAAAGAAGGTCGTG c.420
V A Q T S S P H S G H K | P Q K G K K V V p.140
. . . . . . g.525661
GCTCTGGACCCCTCTCCGCCTCCGAAGGACACCCTGCTGCCGTGGCCCCAGCACCAGAAC c.480
A L D P S P P P K D T L L P W P Q H Q N p.160
. . . . . . g.525721
GCCAACGGGCTGAGGCGGCGCAAACGGGACTGGGTCATCCCGCCCATCAACGTGCCCGAG c.540
A N G L R R R K R D W V I P P I N V P E p.180
. . . | 05 . . . g.597266
AACTCGCGCGGGCCCTTCCCGCAGCAGCTCGTGAGG | ATCCGGTCCGACAAAGACAATGAC c.600
N S R G P F P Q Q L V R | I R S D K D N D p.200
. . . . . . g.597326
ATCCCCATCCGGTACAGCATCACGGGAGTGGGCGCCGACCAGCCCCCCATGGAGGTCTTC c.660
I P I R Y S I T G V G A D Q P P M E V F p.220
. . . . . . g.597386
AGCATTGACTCCATGTCCGGCCGGATGTACGTCACAAGGCCCATGGACCGGGAGGAGCAC c.720
S I D S M S G R M Y V T R P M D R E E H p.240
. | 06 . . . . . g.605376
GCCTCTTACCAC | CTCCGAGCCCACGCTGTGGACATGAATGGCAACAAGGTGGAGAACCCC c.780
A S Y H | L R A H A V D M N G N K V E N P p.260
. . . . . . g.605436
ATCGACCTGTACATCTACGTCATCGACATGAATGACAACCGCCCTGAGTTCATCAACCAG c.840
I D L Y I Y V I D M N D N R P E F I N Q p.280
. . . | 07. . . g.626325
GTCTACAACGGCTCCGTGGACGAGGGCTCCAAGCCAG | GCACCTACGTGATGACCGTCACG c.900
V Y N G S V D E G S K P G | T Y V M T V T p.300
. . . . . . g.626385
GCCAACGATGCTGACGACAGCACCACGGCCAACGGGATGGTGCGGTACCGGATCGTGACC c.960
A N D A D D S T T A N G M V R Y R I V T p.320
. . . . . . g.626445
CAGACCCCACAGAGCCCGTCCCAGAATATGTTCACCATCAACAGCGAGACTGGAGATATC c.1020
Q T P Q S P S Q N M F T I N S E T G D I p.340
. . . | 08 . . . g.647514
GTCACAGTGGCGGCTGGCCTGGACCGAGAG | AAAGTTCAGCAGTACACAGTCATCGTTCAG c.1080
V T V A A G L D R E | K V Q Q Y T V I V Q p.360
. . . . . . g.647574
GCCACAGATATGGAAGGAAATCTCAACTATGGCCTCTCAAACACAGCCACAGCCATCATC c.1140
A T D M E G N L N Y G L S N T A T A I I p.380
. . . . | 09 . g.663008
ACGGTGACAGATGTGAATGACAACCCGCCAGAATTTACCGCCAGCACG | TTTGCAGGGGAG c.1200
T V T D V N D N P P E F T A S T | F A G E p.400
. . . . . . g.663068
GTCCCCGAAAACCGCGTGGAGACCGTGGTCGCAAACCTCACGGTGATGGACCGAGATCAG c.1260
V P E N R V E T V V A N L T V M D R D Q p.420
. . . . . . g.663128
CCCCACTCTCCAAACTGGAATGCCGTTTACCGCATCATCAGTGGGGATCCATCCGGGCAC c.1320
P H S P N W N A V Y R I I S G D P S G H p.440
. . . . . | 10 . g.676033
TTCAGCGTCCGCACAGACCCCGTAACCAACGAGGGCATGGTCACCGTGGTGAAG | GCAGTC c.1380
F S V R T D P V T N E G M V T V V K | A V p.460
. . . . . . g.676093
GACTACGAGCTCAACAGAGCTTTCATGCTGACAGTGATGGTGTCCAACCAGGCGCCCCTG c.1440
D Y E L N R A F M L T V M V S N Q A P L p.480
. . . . . . g.676153
GCCAGCGGAATCCAGATGTCCTTCCAGTCCACGGCAGGGGTGACCATCTCCATCATGGAC c.1500
A S G I Q M S F Q S T A G V T I S I M D p.500
. . . . . . g.676213
ATCAACGAGGCTCCCTACTTCCCCTCAAACCACAAGCTGATCCGCCTGGAGGAGGGCGTG c.1560
I N E A P Y F P S N H K L I R L E E G V p.520
. . . . . . g.676273
CCCCCCGGCACCGTGCTGACCACGTTTTCAGCTGTGGACCCTGACCGGTTCATGCAGCAG c.1620
P P G T V L T T F S A V D P D R F M Q Q p.540
| 11 . . . . . g.676962
GCTGTGAG | ATACTCAAAGCTGTCAGACCCAGCGAGCTGGCTGCACATCAATGCCACCAAC c.1680
A V R | Y S K L S D P A S W L H I N A T N p.560
. . . . . . g.677022
GGCCAGATCACCACGGCGGCAGTGCTGGACCGTGAGTCCCTCTACACCAAAAACAACGTC c.1740
G Q I T T A A V L D R E S L Y T K N N V p.580
. . . | 12 . . . g.680795
TACGAGGCCACCTTCCTGGCAGCTGACAATG | GGATACCCCCGGCCAGCGGCACCGGGACC c.1800
Y E A T F L A A D N G | I P P A S G T G T p.600
. . . . . . g.680855
CTCCAGATCTATCTCATTGACATCAACGACAACGCCCCTGAGCTGCTGCCCAAGGAGGCG c.1860
L Q I Y L I D I N D N A P E L L P K E A p.620
. . . . . . g.680915
CAGATCTGCGAGAAGCCCAACCTGAACGCCATCAACATCACGGCGGCCGACGCTGACGTC c.1920
Q I C E K P N L N A I N I T A A D A D V p.640
. . . . . . g.680975
GACCCCAACATCGGCCCCTACGTCTTCGAGCTGCCCTTTGTCCCGGCGGCCGTGCGGAAG c.1980
D P N I G P Y V F E L P F V P A A V R K p.660
. . | 13 . . . . g.682220
AACTGGACCATCACCCGCCTGAACG | GTGACTATGCCCAACTCAGCTTGCGCATCCTGTAC c.2040
N W T I T R L N G | D Y A Q L S L R I L Y p.680
. . . . . . g.682280
CTGGAGGCCGGGATGTATGACGTCCCCATCATCGTCACAGACTCTGGAAACCCTCCCCTG c.2100
L E A G M Y D V P I I V T D S G N P P L p.700
. . . . . . g.682340
TCCAACACGTCCATCATCAAAGTCAAGGTGTGCCCATGTGATGACAACGGGGACTGCACC c.2160
S N T S I I K V K V C P C D D N G D C T p.720
. . . . . . g.682400
ACCATTGGCGCAGTGGCAGCGGCTGGTCTGGGCACCGGTGCCATCGTGGCCATCCTCATC c.2220
T I G A V A A A G L G T G A I V A I L I p.740
. | 14 . . . . g.685602
TGCATCCTCATCCTGCTGA | CCATGGTCCTGCTGTTTGTCATGTGGATGAAGCGGCGAGAG c.2280
C I L I L L T | M V L L F V M W M K R R E p.760
. . . . . . g.685662
AAGGAGCGCCACACGAAGCAGCTGCTCATTGACCCCGAGGACGACGTCCGCGACAACATC c.2340
K E R H T K Q L L I D P E D D V R D N I p.780
. . . | 15 . . g.686653
CTCAAGTATGACGAGGAAGGCGGTGGCGAGGAGGACCAG | GACTACGACCTCAGCCAGCTG c.2400
L K Y D E E G G G E E D Q | D Y D L S Q L p.800
. . . . . . g.686713
CAGCAGCCGGAAGCCATGGGGCACGTGCCAAGCAAAGCCCCTGGCGTGCGTCGCGTGGAT c.2460
Q Q P E A M G H V P S K A P G V R R V D p.820
. . . . . . g.686773
GAGCGGCCGGTGGGCGCTGAGCCCCAGTACCCGATCAGGCCCATGGTGCCGCACCCAGGC c.2520
E R P V G A E P Q Y P I R P M V P H P G p.840
. . | 16 . . . . g.689349
GACATCGGTGACTTCATCAATGAG | GGACTCCGCGCTGCTGACAACGACCCCACGGCACCC c.2580
D I G D F I N E | G L R A A D N D P T A P p.860
. . . . . . g.689409
CCCTATGACTCCCTGCTGGTCTTCGACTACGAGGGGAGCGGCTCCACCGCAGGCTCCGTC c.2640
P Y D S L L V F D Y E G S G S T A G S V p.880
. . . . . . g.689469
AGCTCCCTGAACTCATCCAGTTCCGGGGACCAAGACTACGATTACCTCAACGACTGGGGG c.2700
S S L N S S S S G D Q D Y D Y L N D W G p.900
. . . . . g.689520
CCCAGATTCAAGAAGCTGGCGGACATGTATGGAGGTGGTGAAGAGGATTGA c.2751
P R F K K L A D M Y G G G E E D X p.916
. . . . . . g.689580
ctgacctcgcatcttcggaccgaagtgagagccgtgctcggacgccggaggagcaggact c.*60
. . . . . . g.689640
gagcagaggcggccggtcttcccgactccctgcggctgtgtccttagtgctgttaggagg c.*120
. . . . . . g.689700
ccccccaatccccacgttgagctgtctagcatgagcacccacccccacagcgccctgcac c.*180
. . . . . . g.689760
ccggccgctgcccagcaccgcgctggctggcactgaaggacagcaagaggcactctgtct c.*240
. . . . . . g.689820
tcacttgaatttcctagaacagaagcactgtttttaaaaaaaaaaaaaaaaaaagaagaa c.*300
. . . . . . g.689880
agaaagaaaaaaaaaaaaaaaagaaagtgccttttggtatgtatcagattccctcaaact c.*360
. . . . . . g.689940
caggagtgtctaaagcagacagaccgtccccaccttcccatcccgagcggcctccaaccc c.*420
. . . . . . g.690000
cagctagtcccagctctgaaggcatcattcagaaatgggggagactgtgtctgtctttct c.*480
. . . . . . g.690060
tactttttttttggtcttttattaagaaaaagaaagtgggtgacttgtttgaaaacagag c.*540
. . . . . . g.690120
tggggttcaaatcccagcagcctttgctgtacacagctgggggtctcttgagcctcttgg c.*600
. . . . . . g.690180
gagtcaaggccagctgggaggcttagcccttcagccccagcagaaggccctggggctggt c.*660
. . . . . . g.690240
ggggctcagaatacccctaccttgtggctgctccccacccctcccggatgctgtgaggag c.*720
. . . . . . g.690300
ctcaggcaggggcctggaggggaacaggggtcatcctgaaggggctccacccccagtcaa c.*780
. . . . . . g.690360
cccaggcctccctcagggacacctgtcaccctgagtgccaccaggtcccctctgcctttg c.*840
. . . . . . g.690420
gtccagaagagtgagttgtccaaaccagccagcatctggctccagccctccaaccctggc c.*900
. . . . . . g.690480
gaccagaccccatggggtgccatcaacggccccgcgacaggcatcaattcaaaccccagg c.*960
. . . . . . g.690540
acactctcgacagctccaaccatccggagggctgtgcagatggcaggaaccaaggaccct c.*1020
. . . . . . g.690600
ccctggcagctgaagagggcagttacggttgggcgtggtgaccagaacacacccagcagc c.*1080
. . . . . . g.690660
ctgcgaagcctccccgtccccagcctgtgctcctgattcccgccagacgcttgtgagcct c.*1140
. . . . . . g.690720
gtgtgggtggcaggaggccccgtcttgccgtgcctacctgtcgcacagatgcctctgcac c.*1200
. . . . . . g.690780
gctgcagacggtgcctctcctctcctatggaccctcgtcgggggcaggcagcggccgggt c.*1260
. . . . . . g.690840
ccaaacttgctgctgtcctcgaggctggcactgctatctccagggctgggttgactcaag c.*1320
. . . . . . g.690900
ccagacagggggaaggaattggttctgcaggacagtgagagggtctgtgtcccggcaccc c.*1380
. . . . . . g.690960
ctgggacagcgctcggctgcctgtgctcactgcatgagaaaactcagagggtgcattctc c.*1440
. . . . . . g.691020
cctctggcatggctgtgtctgggcgccttgggctgcggcagggggcaggccccacgtggg c.*1500
. . . . . . g.691080
gaagcctcgtgcttggtcagctttctgtctctcccaggccagtgacaactggcttcccga c.*1560
. . . . . . g.691140
ggaaggaggtgaggtaccagggaccctgggcaggacctggtgtcgggcagggcggtgcca c.*1620
. . . . . . g.691200
gcactggggaaggacagggagccctcccggagccccaccctgcacctgccactggggtca c.*1680
. . . . . . g.691260
gggagtgtctcggggtgcctttgggggcagcatgagctccaccaggggccccggccccca c.*1740
. . . . . . g.691320
cctcagcctatggcccttccccatggctaaggtcatgccttttctgaacagctttggcct c.*1800
. . . . . . g.691380
tgagtgcacacatctgtgccaggctcacggcatgttcccgttggatgtcagggtccttgt c.*1860
. . . . . . g.691440
ccaaaccaaactcacagctgcccctgtgcagccttcagagttgagctggggtctcagtct c.*1920
. . . . . . g.691500
ccaacctgtcctttctgaccctcccatggctgcccagggagggcggggttcactgtgcca c.*1980
. . . . . . g.691560
cgtgctgggtgcccccctctgcagacagccagtccaggagatggaccaacagaggtcaag c.*2040
. . . . . . g.691620
gggcagctggccaggccgcaccggggtccccgagttctgagctgtgctatgcaaacaaga c.*2100
. . . . . . g.691680
atgctcctgtgtgggggggcatggccgttggaggtatagctgggcgggtagtggaaggac c.*2160
. . . . . . g.691740
tggaaatctctgttgttgtttggggaagtccatgcttcagtccttcggagtatgcgtgga c.*2220
. . . . . . g.691800
ttgttcgaagtgtgactatggcccgggagccagggcagcatgaactcctttctctgaaat c.*2280
. . . . . . g.691860
ttcgaggcctccttgggttccctgaactccgggctgatgttcccaggacccagcaccagg c.*2340
. . . . . . g.691920
agaccccagtcccgccagcagccgccgctacccaggagggctgggcgacattggccgcct c.*2400
. . . . . . g.691980
cccactagctccccctcctcgcccacagcctcttgtcactgccaagcccccgttcctttt c.*2460
. . . . . . g.692040
gcccaaatcacgcaggcggaagctgcagtgccagctggagggatgttcatagggcttcct c.*2520
. . . . . . g.692100
gtgcccatccctgctccaaacagctggacagcttcccctctacccccaccctggtgagcc c.*2580
. . . . . . g.692160
cctgggggccagagaaagatggggttcctgcaccttcccagctccacctctgaacttgag c.*2640
. . . . . . g.692220
ttagcgttagctaagcatacaatcagtgtcgaacgtctctcttccttaagcttgtagata c.*2700
. . . . . . g.692280
cgactgcctataatcaggggactcccactggaggccgggaggccaatgctggccaggtgc c.*2760
. . . . . . g.692340
gagggcatggtttggttcctttagggaatttttgttttgcaaacaggagaaacctgtgct c.*2820
. . . . . . g.692400
gcaggttggagtggcaggaacgactggccttggtcagcaggcagcccccagcctagggcc c.*2880
. . . . . . g.692460
acagtcctcttcagggcctgggcagccccaatttctggcccagcaggtttctctttgtag c.*2940
. . . . . . g.692520
tgtctttcagcacatccaaaatgctaggcctcctgccaccaacgtgtcagagcaatgtcc c.*3000
. . . . . . g.692580
aactgtcaggctctcagagatgcctcagtttccctagcatgagcaccagccgacacacac c.*3060
. . . . . . g.692640
agtccactgagatgataattctgttctctccaaagcaaaaagctgggcgaggggtagtct c.*3120
. . . . . . g.692700
caatttctgtcagtgctcaaaggaataacaccaaaagaatcaacacagaatctcccagac c.*3180
. . . . . . g.692760
acacgtgacccagctcgtggcgccgtgggtccgtaggagggacagtacctcacaacaggc c.*3240
. . . . . . g.692820
ccagcgggggaccacctctctgtacaattggaatgcgttttacttttcttttctctcctt c.*3300
. . . . . . g.692880
ttttcattccgattttttttgcatgtttctttttgaaatgggcaaaatgtgtagcagcct c.*3360
. . . . . . g.692940
gcatgagcacagttgttttggggaaagatactggagtatgatgtactcacacctgcaaat c.*3420
. . . . . . g.693000
ctgagcatcgcgaggttaaacgttccacctttttttgtaatcgtcaacagcacaactatt c.*3480
. . . . . . g.693060
ttgtattgttgtttgtatcattttgtaccaaaaaaaaaaaggaaaaaaaaagggaagaga c.*3540
. . . . . . g.693120
gttgatgttttcagtgtgtttccagtgccagacagtcttggtcctgaactcagtagaccc c.*3600
. . . . . . g.693180
ttgcggagcggttgtgcgcgggcaggcggggcgcgctgctccagagaatgaataaagtcc c.*3660
. g.693192
cccttttccgta c.*3672
(downstream sequence)
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