(used for variant description)
(last modified October 26, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_001130105.1 in the COL4A3BP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering COL4A3BP transcript NM_001130105.1.
(upstream sequence)
. g.5017
aaacgaagcccacccac c.-121
. . . . . . g.5077
cgactgacaaggccccaaggggacaagcgatccccgcgcgggatactcacccgttacctc c.-61
. . . . . . g.5137
aggatcgcgactacaactcccaggaggctgcgcgagcgacggaccaacgcccttcccaga c.-1
. . . . . . g.5197
ATGCAGCACAGCTGCATCCCTACCCCGCCCTCTCCTTTCTCCGCTCCTCCTGCTTTTCTA c.60
M Q H S C I P T P P S P F S A P P A F L p.20
. . | 02 . . . . g.5510
CCCGTCGTCACCCGGGAGAGCCGGAG | GGGGCTAAGTTCGGGTGGCAGCGCCGGGCGCAAC c.120
P V V T R E S R R | G L S S G G S A G R N p.40
. . . . . . g.5570
GCAGGGGTCACGGCGACGGCGGCGGCGGCTGACGGCTGGAAGGGTAGGCTTCCTTCACCG c.180
A G V T A T A A A A D G W K G R L P S P p.60
. . . . . . g.5630
CTCGTCCTCCTTCCTCGCTCCGCTCGGTGTCAGGCGCGGCGGCGGCGCGGCGGGCGGACT c.240
L V L L P R S A R C Q A R R R R G G R T p.80
. . . . . . g.5690
TCGTCCCTCCTCCTGCTCCCCCCCACACCGGAGCGGGCACTCTTCGCTTCGCCATCCCCC c.300
S S L L L L P P T P E R A L F A S P S P p.100
. . . . . . g.5750
GACCCTTCACCCCGAGGACTGGGCGCCTCCTCCGGCGCAGCTGAGGGAGCGGGGGCCGGT c.360
D P S P R G L G A S S G A A E G A G A G p.120
. . . . . . g.5810
CTCCTGCTCGGTTGTCGAGCCTCCATGTCGGATAATCAGAGCTGGAACTCGTCGGGCTCG c.420
L L L G C R A S M S D N Q S W N S S G S p.140
. . . . . . g.5870
GAGGAGGATCCAGAGACGGAGTCTGGGCCGCCTGTGGAGCGCTGCGGGGTCCTCAGTAAG c.480
E E D P E T E S G P P V E R C G V L S K p.160
| 03 . . . . . . g.10925
| TGGACAAACTACATTCATGGGTGGCAGGATCGTTGGGTAGTTTTGAAAAATAATGCTCTG c.540
| W T N Y I H G W Q D R W V V L K N N A L p.180
. . . . . . g.10985
AGTTACTACAAATCTGAAGATGAAACAGAGTATGGCTGCAGAGGATCCATCTGTCTTAGC c.600
S Y Y K S E D E T E Y G C R G S I C L S p.200
. | 04 . . . . . g.57845
AAGGCTGTCATCACA | CCTCACGATTTTGATGAATGTCGATTTGATATTAGTGTAAATGAT c.660
K A V I T | P H D F D E C R F D I S V N D p.220
. . . . . . g.57905
AGTGTTTGGTATCTTCGTGCTCAGGATCCAGATCATAGACAGCAATGGATAGATGCCATT c.720
S V W Y L R A Q D P D H R Q Q W I D A I p.240
. | 05 . . . . . g.90551
GAACAGCACAAG | ACTGAATCTGGATATGGATCTGAATCCAGCTTGCGTCGACATGGCTCA c.780
E Q H K | T E S G Y G S E S S L R R H G S p.260
. . . . . . g.90611
ATGGTGTCCCTGGTGTCTGGAGCAAGTGGCTACTCTGCAACATCCACCTCTTCATTCAAG c.840
M V S L V S G A S G Y S A T S T S S F K p.280
| 06 . . . . . . g.91542
| AAAGGCCACAGTTTACGTGAGAAGTTGGCTGAAATGGAAACATTTAGAGACATCTTATGT c.900
| K G H S L R E K L A E M E T F R D I L C p.300
. . . . . . g.91602
AGACAAGTTGACACGCTACAGAAGTACTTTGATGCCTGTGCTGATGCTGTCTCTAAGGAT c.960
R Q V D T L Q K Y F D A C A D A V S K D p.320
. | 07 . . . . g.97598
GAACTTCAAAGGGATAAAG | TGGTAGAAGATGATGAAGATGACTTTCCTACAACGCGTTCT c.1020
E L Q R D K V | V E D D E D D F P T T R S p.340
. . . . | 08 . . g.99965
GATGGTGACTTCTTGCATAGTACCAACGGCAATAAAGAAAAGT | TATTTCCACATGTGACA c.1080
D G D F L H S T N G N K E K L | F P H V T p.360
. . . . . . g.100025
CCAAAAGGAATTAATGGTATAGACTTTAAAGGGGAAGCGATAACTTTTAAAGCAACTACT c.1140
P K G I N G I D F K G E A I T F K A T T p.380
. . . . . . g.100085
GCTGGAATCCTTGCAACACTTTCTCATTGTATTGAACTAATGGTTAAACGTGAGGACAGC c.1200
A G I L A T L S H C I E L M V K R E D S p.400
. . | 09 . . . . g.105917
TGGCAGAAGAGACTGGATAAG | GAAACTGAGAAGAAAAGAAGAACAGAGGAAGCATATAAA c.1260
W Q K R L D K | E T E K K R R T E E A Y K p.420
. . . . . | 10 . g.113929
AATGCAATGACAGAACTTAAGAAAAAATCCCACTTTGGAGGACCAGATTATGAA | GAAGGC c.1320
N A M T E L K K K S H F G G P D Y E | E G p.440
. . . . . . g.113989
CCTAACAGTCTGATTAATGAAGAAGAGTTCTTTGATGCTGTTGAAGCTGCTCTTGACAGA c.1380
P N S L I N E E E F F D A V E A A L D R p.460
. . | 11 . . . . g.116723
CAAGATAAAATAGAAGAACAG | TCACAGAGTGAAAAGGTGAGATTACATTGGCCTACATCC c.1440
Q D K I E E Q | S Q S E K V R L H W P T S p.480
. . . . . | 12 . g.117600
TTGCCCTCTGGAGATGCCTTTTCTTCTGTGGGGACACATAGATTTGTCCAAAAG | CCCTAT c.1500
L P S G D A F S S V G T H R F V Q K | P Y p.500
. . . . . . g.117660
AGTCGCTCTTCCTCCATGTCTTCCATTGATCTAGTCAGTGCCTCTGATGATGTTCACAGA c.1560
S R S S S M S S I D L V S A S D D V H R p.520
. | 13 . . . . . g.127342
TTCAGCTCCCAG | GTTGAAGAGATGGTGCAGAACCACATGACTTACTCATTACAGGATGTA c.1620
F S S Q | V E E M V Q N H M T Y S L Q D V p.540
. . . . | 14 . g.130959
GGCGGAGATGCCAATTGGCAGTTGGTTGTAGAAGAAGGAGAAATGAAG | GTATACAGAAGA c.1680
G G D A N W Q L V V E E G E M K | V Y R R p.560
. . . . . . g.131019
GAAGTAGAAGAAAATGGGATTGTTCTGGATCCTTTAAAAGCTACCCATGCAGTTAAAGGC c.1740
E V E E N G I V L D P L K A T H A V K G p.580
. . . . . . g.131079
GTCACAGGACATGAAGTCTGCAATTATTTCTGGAATGTTGACGTTCGCAATGACTGGGAA c.1800
V T G H E V C N Y F W N V D V R N D W E p.600
| 15 . . . . . . g.132328
A | CAACTATAGAAAACTTTCATGTGGTGGAAACATTAGCTGATAATGCAATCATCATTTAT c.1860
T | T I E N F H V V E T L A D N A I I I Y p.620
. | 16 . . . . . g.134952
CAAACACACAAG | AGGGTGTGGCCTGCTTCTCAGCGAGACGTATTATATCTTTCTGTCATT c.1920
Q T H K | R V W P A S Q R D V L Y L S V I p.640
. . . . . . g.135012
CGAAAGATACCAGCCTTGACTGAAAATGACCCTGAAACTTGGATAGTTTGTAATTTTTCT c.1980
R K I P A L T E N D P E T W I V C N F S p.660
. . | 17 . . . . g.135819
GTGGATCATGACAGTGCTCCT | CTAAACAACCGATGTGTCCGTGCCAAAATAAATGTTGCT c.2040
V D H D S A P | L N N R C V R A K I N V A p.680
. . . . . . g.135879
ATGATTTGTCAAACCTTGGTAAGCCCACCAGAGGGAAACCAGGAAATTAGCAGGGACAAC c.2100
M I C Q T L V S P P E G N Q E I S R D N p.700
. . . | 18 . . . g.137537
ATTCTATGCAAGATTACATATGTAGCTAATG | TGAACCCTGGAGGATGGGCACCAGCCTCA c.2160
I L C K I T Y V A N V | N P G G W A P A S p.720
. . . . . . g.137597
GTGTTAAGGGCAGTGGCAAAGCGAGAGTATCCTAAATTTCTAAAACGTTTTACTTCTTAC c.2220
V L R A V A K R E Y P K F L K R F T S Y p.740
. . . g.137636
GTCCAAGAAAAAACTGCAGGAAAGCCTATTTTGTTCTAG | c.2260
V Q E K T A G K P I L F X p.752
| 19 . . . . . g.142841
tattaacag | tgactgaagcaaggctgtgtgacattccatgttggagaaaaaaagaaaaaa c.*60
. . . . . . g.142901
aaaagctgaatgctctaagctggaacgtaggatctatagccttgtctgtggcccaagacc c.*120
. . . . . . g.142961
ttggccttgtgtacaaaaatgacaaaatattgcaatagcaaagctgaacatctaacacta c.*180
. . . . . . g.143021
gctatctcttgctagatctccttgctcagcatataactataaatacatgtaaaattacat c.*240
. . . . . . g.143081
gtatatggctatatttttatttgcttgctcctagaagagaaaaaaaaatcaactttgaat c.*300
. . . . . . g.143141
cacaactaggaattgatgctttaatttttggatactttttcagaatttttaatttactat c.*360
. . . . . . g.143201
ggtccggcctaagatcctctgttgtatcaggttttgtgcacaaaagaaaagcacaaaagt c.*420
. . . . . . g.143261
tgaatgcacatggggcatgtgctttctgtgcaccaaatatctggatgaggttcttttttc c.*480
. . . . . . g.143321
aggcctacagtcaaatctgtgtccagaattttttgacttttttgctttgtataatcatag c.*540
. . . . . . g.143381
aattcattgctgctgatttctataatgattcatgttgtcatgtgtctcttaataactgag c.*600
. . . . . . g.143441
ggctgtcagtaacctgtgattttgccttttctatagtcttactcccatgaagaaccttgg c.*660
. . . . . . g.143501
ttctgatggagaaagtgaaaagctttatttcttcccctagatatctttatatttctatta c.*720
. . . . . . g.143561
tattttttagttgtgtactgtgtactagagatttttttcagtttgttatgaacacaattt c.*780
. . . . . . g.143621
ggtaagccctaaattggttctgcctgtctccaaacagaaacatctgtacaaatcttgttg c.*840
. . . . . . g.143681
gtatagactactttctggaaaatggtcaagataagttcatgttttcttgaaatttctaag c.*900
. . . . . . g.143741
atagtatatggtatcacttgtttaaagcaaatcagactgagtttgacatttaattcaata c.*960
. . . . . . g.143801
tttctggtattcagtaacgggtatatatgtttgttcttccagtttgggtcagtttaaaag c.*1020
. . . . . . g.143861
atatgttgcaaagtatacatagaaaatgtgagcaatgcctctctttgccttttgatcaga c.*1080
. . . . . . g.143921
aacttcagcagagcggtaaggattccacatgatttaaactgaaatgcttttctttgttgc c.*1140
. . . . . . g.143981
tgtaagaacttaaaatgtaaaatacctttttcagtttaagtcctgtaaacaacattgaag c.*1200
. . . . . . g.144041
catggagatgaggcaaggaatagtactcactgaagttgaaatgactgcccacttcaaaat c.*1260
. . . . . . g.144101
cttcattgtgtttacacaccagtgtatttatacaaatcagaggcattttgtagatgcttt c.*1320
. . . . . . g.144161
gctgacttgttcagctctgtaaaaacacagaaatcagacccattttgtaaagcggaaaat c.*1380
. . . . . . g.144221
catgttacatggaacatgtcctgtatatatcacatacatggtaatggagtcttaatgata c.*1440
. . . . . . g.144281
agtgcaagataataatttaatgatgggattagtctgatcgcttaatatgcacaatcctgg c.*1500
. . . . . . g.144341
aagtgaattacttgcatcagatatagtgatatttattattctgtacagagagaaaaatac c.*1560
. . . . . . g.144401
atataaaacatatgcttacattacatgcacgcggatttcatgctccataatcttttctat c.*1620
. . . . . . g.144461
tttttaatttacctttctgtaaatgatgtgcatggaatatgccttatagaaaaatgctgt c.*1680
. . . . . . g.144521
tcataatttgactacgtggaaaagtgcctatatggtggtaatgctagtaaggcaaataag c.*1740
. . . . . . g.144581
acaaattatcatgttggtttactacatcaccagttaacattttatattgtgatgtttaaa c.*1800
. . . . . . g.144641
aaagaaaaatttatacctcaaatgtgtattttattttacaatcagctgtggggtatgggg c.*1860
. . . . . . g.144701
ttgggatgggagaatgggggggttggggagggcaggtttattcaccatagccgctgataa c.*1920
. . . . . . g.144761
gaatcttcaaaaaaattctatatgcgcactataaatgtttctctgtttgccatttctggt c.*1980
. . . . . . g.144821
aactatcatgaacacagacagttaactctttcataactgaattggatagctttattttac c.*2040
. . . . . . g.144881
agaagtatggcaagtttacaaagcaatatctaaatctaattatcattagttgcatttgga c.*2100
. . . . . . g.144941
ctaaatgtgatgatatacttttgcaattgattctgtaaataaaaggattacactaaaata c.*2160
. . . . . . g.145001
tttgtattaaaagaagaaaagataacattttacctttagataactgcacttgtacctcac c.*2220
. . . . . . g.145061
tagagttaatcccacccaatcagattgagaaataaattggggaatgtggaaagagtccaa c.*2280
. . . . . . g.145121
aagaggtcagaatttggagaggtactggccttctggacaacatttagaccctctacaatt c.*2340
. . . . . . g.145181
attttcattaagctgattcctacatcctgaatattcatgttttctcatctacagatattt c.*2400
. . . . . . g.145241
gtcttcccccaaactaaaagaaaaaaaactaccctttactctcttttctactcagttact c.*2460
. . . . . . g.145301
cttttgtgctatgttagaaacttgaaatatattggtgatgtggggattttgtccctgact c.*2520
. . . . . . g.145361
gcccactgtacaggacaagagagtacagtgtttcagttggaattcaggactcctggtttt c.*2580
. . . . . . g.145421
gaggtagaggatgatcactgcagtacttggtttggaattgccacaggggtagctaaacca c.*2640
. . . . . . g.145481
aaggagggttatatctgcaagggaggtgtaagaaggcaaaataaggaaaaggaggaatgg c.*2700
. . . . . . g.145541
gttttctatttgttcagtttcatcaactaatttatacacttaatacaacttcagtgtcaa c.*2760
. . . . . . g.145601
ttgctattaagaaatttttagttgggctgagctggttctcttgtgaaattgtgctggtta c.*2820
. . . . . . g.145661
tctttaagcttatcagttatttgtccaattaaacacttttcaccagtatttagtccgagt c.*2880
. . . . . . g.145721
tgtacagacgatgtatttggattttgtcatggttcatctacagactcaaaacataatcat c.*2940
. . . . . . g.145781
tttaaagtaccttgggagtgtgtagagtaacttctataatagctttatgatcctgatgat c.*3000
. . . . . . g.145841
gttttttaaacacaataaagttggatcttccatgttacaatcacagaattaaaaccagta c.*3060
. . . g.145879
tttaaagtggaaaagtattaaaatattatggacaaata c.*3098
(downstream sequence)
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