(used for variant description)
(last modified May 23, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_000494.3 in the COL17A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007069.1, covering COL17A1 transcript NM_000494.3.
(upstream sequence)
. . . . g.5049
aacatttttgaaagatcactcagctttaacacaccttggctgggtctgg c.-121
. . . . . . g.5109
ataaaaaaaaagtgagcactgcaaatttctagaagaaaacatcaggagaagaaagagaga c.-61
. . . . . | 02 g.10207
gggggatttattcaaagttgtttccaattccttcaaaacctcaaaccag | gtggctatggt c.-1
. . . . . | 03 . g.12302
ATGGATGTAACCAAGAAAAACAAACGAGATGGAACTGAAGTCACTGAGAGAA | TTGTCACT c.60
M D V T K K N K R D G T E V T E R I | V T p.20
. . . | 04. . . g.13377
GAAACAGTAACCACAAGACTTACATCCTTACCACCAA | AAGGCGGGACCAGCAATGGCTAT c.120
E T V T T R L T S L P P K | G G T S N G Y p.40
. . . . . . g.13437
GCTAAAACAGCCTCTCTTGGTGGAGGGAGCCGGCTGGAGAAACAAAGCCTGACTCATGGC c.180
A K T A S L G G G S R L E K Q S L T H G p.60
. . | 05 . . . . g.14489
AGCAGCGGCTACATAAACTCAA | CTGGAAGCACACGAGGCCATGCCTCCACCTCTAGTTAC c.240
S S G Y I N S T | G S T R G H A S T S S Y p.80
. . . . . . g.14549
AGGAGGGCTCACTCACCTGCCTCCACTCTGCCCAACTCCCCAGGCTCAACCTTTGAAAGG c.300
R R A H S P A S T L P N S P G S T F E R p.100
. . . | 06 . . . g.16678
AAAACTCACGTTACCCGCCATGCGTATGAAG | GGAGCTCCAGTGGCAACTCTTCTCCGGAG c.360
K T H V T R H A Y E G | S S S G N S S P E p.120
. | 07 . . . | 08 . g.18806
TACCCTCGGAAGGAATTTG | CATCTTCTTCAACCAGAGGACGGAGTCAAACACGAG | AGAGT c.420
Y P R K E F A | S S S T R G R S Q T R E | S p.140
. . . . | 09 . . g.20328
GAAATTCGAGTTCGACTGCAGAGTGCGTCCCCATCCACCCGAT | GGACAGAATTGGATGAT c.480
E I R V R L Q S A S P S T R W | T E L D D p.160
. . . . . . g.20388
GTTAAGCGTTTGCTCAAGGGGAGTCGATCGGCAAGTGTGAGCCCCACCCGGAATTCCTCC c.540
V K R L L K G S R S A S V S P T R N S S p.180
. . . . . . g.20448
AACACACTCCCCATCCCCAAGAAAGGCACTGTGGAGACCAAAATTGTGACAGCGAGCTCC c.600
N T L P I P K K G T V E T K I V T A S S p.200
| 10. . . . . . g.26337
CAGTCGG | TGTCAGGCACCTACGATGCAACGATCCTGGATGCCAACCTTCCCTCCCATGTG c.660
Q S V | S G T Y D A T I L D A N L P S H V p.220
. . . . . . g.26397
TGGTCCTCCACCCTGCCCGCGGGGTCCTCCATGGGGACCTATCACAACAACATGACAACC c.720
W S S T L P A G S S M G T Y H N N M T T p.240
. . . . | 11 . . g.27076
CAGAGCTCATCCCTCCTCAACACCAATGCCTACTCTGCGGGATCAG | TCTTCGGAGTTCCA c.780
Q S S S L L N T N A Y S A G S V | F G V P p.260
. . . . . | 12 g.28553
AACAACATGGCGTCCTGCTCACCCACTTTGCACCCTGGACTCAGCACATCCTCCTCAG | TG c.840
N N M A S C S P T L H P G L S T S S S V | p.280
. . . . . . g.28613
TTTGGCATGCAGAACAATCTGGCCCCCAGCTTGACCACCCTGTCCCATGGCACCACCACC c.900
F G M Q N N L A P S L T T L S H G T T T p.300
. | 13 . . . . . g.29457
ACTTCCACAG | CATATGGGGTGAAGAAAAACATGCCCCAGAGTCCTGCGGCTGTGAACACT c.960
T S T A | Y G V K K N M P Q S P A A V N T p.320
. | 14 . . . . g.30641
GGCGTTTCCACCTCCGCCG | CCTGCACCACAAGTGTGCAGAGCGATGACCTTTTGCACAAG c.1020
G V S T S A A | C T T S V Q S D D L L H K p.340
. . . . . . g.30701
GACTGCAAGTTCCTGATCCTAGAGAAAGACAACACACCTGCCAAGAAGGAGATGGAGCTG c.1080
D C K F L I L E K D N T P A K K E M E L p.360
. . . . . . g.30761
CTCATCATGACCAAGGACAGCGGGAAGGTCTTTACAGCCTCCCCTGCCAGCATCGCTGCA c.1140
L I M T K D S G K V F T A S P A S I A A p.380
| 15 . . . . . . g.31221
A | CTTCTTTTTCAGAAGACACCCTAAAAAAAGAAAAGCAAGCTGCCTACAATGCTGACTCA c.1200
T | S F S E D T L K K E K Q A A Y N A D S p.400
. . | 16 . . . . g.32728
GGCCTAAAAGCCGAAGCTAATG | GAGACCTGAAGACTGTGTCCACAAAGGGCAAGACCACC c.1260
G L K A E A N G | D L K T V S T K G K T T p.420
| 17. . . . . . g.33761
ACTGCAG | ATATCCACAGCTACGGCAGCAGTGGTGGTGGTGGCAGTGGAGGAGGTGGCGGT c.1320
T A D | I H S Y G S S G G G G S G G G G G p.440
. . . . . . g.33821
GTTGGTGGCGCTGGCGGCGGCCCTTGGGGACCAGCGCCAGCCTGGTGCCCCTGCGGCTCC c.1380
V G G A G G G P W G P A P A W C P C G S p.460
. . . . . . g.33881
TGCTGCAGCTGGTGGAAGTGGCTGCTGGGCCTGCTGCTCACCTGGCTGCTACTCCTGGGG c.1440
C C S W W K W L L G L L L T W L L L L G p.480
. . | 18 . . . . g.34912
CTGCTCTTCGGCCTCATTGCTCTGG | CGGAGGAGGTGAGGAAGCTGAAGGCGCGTGTGGAT c.1500
L L F G L I A L A | E E V R K L K A R V D p.500
. . . . . . g.34972
GAGCTGGAGAGGATCAGGAGGAGCATACTGCCCTATGGGGACAGCATGGATAGAATAGAA c.1560
E L E R I R R S I L P Y G D S M D R I E p.520
. . . . . . g.35032
AAGGACCGCCTCCAGGGCATGGCACCCGCGGCGGGAGCAGACCTGGACAAAATTGGGCTG c.1620
K D R L Q G M A P A A G A D L D K I G L p.540
. . . . . . g.35092
CACAGTGACAGCCAGGAGGAGCTCTGGATGTTCGTGAGGAAGAAGCTAATGATGGAACAG c.1680
H S D S Q E E L W M F V R K K L M M E Q p.560
| 19. . . | 20. . . g.35896
GAAAATG | GAAATCTCCGAGGAAGCCCTGGCCCTAAAG | GTGACATGGGAAGTCCAGGCCCT c.1740
E N G | N L R G S P G P K G | D M G S P G P p.580
| 21 . . . | 22 . . . g.36927
AAAG | GAGATCGAGGGTTCCCTGGGACTCCAG | GTATCCCTGGGCCCTTGGGCCACCCAGGT c.1800
K G | D R G F P G T P G | I P G P L G H P G p.600
. . . | 23 . . . g.37771
CCACAAGGACCAAAGGGTCAAAAAGGCAGCGTGG | GAGATCCTGGCATGGAAGGCCCCATG c.1860
P Q G P K G Q K G S V G | D P G M E G P M p.620
. . . . . . g.37831
GGCCAGAGAGGGCGAGAAGGCCCCATGGGACCTCGTGGTGAGGCAGGGCCTCCTGGATCT c.1920
G Q R G R E G P M G P R G E A G P P G S p.640
. | 24 . . . . g.38704
GGAGAGAAAGGGGAAAGAG | GGGCTGCTGGTGAACCAGGTCCTCATGGCCCACCTGGTGTC c.1980
G E K G E R G | A A G E P G P H G P P G V p.660
. . | 25 . . . | 26 g.39981
CCAGGTTCTGTGGGTCCCAAAG | GTTCCAGCGGCTCTCCTGGCCCACAGGGCCCTCCAG | GT c.2040
P G S V G P K G | S S G S P G P Q G P P G | p.680
. . . . . | 27 . g.40232
CCTGTAGGTCTCCAAGGGCTCCGAGGTGAAGTAGGACTTCCTGGTGTCAAAG | GTGACAAA c.2100
P V G L Q G L R G E V G L P G V K G | D K p.700
. . | 28 . . . g.40788
GGACCAATGGGACCACCAGGACCCAAAG | GTGACCAGGGTGAGAAAGGACCTCGAGGCCTC c.2160
G P M G P P G P K G | D Q G E K G P R G L p.720
| 29 . . . . . . g.41465
ACAG | GCGAGCCTGGCATGAGAGGTTTGCCTGGTGCTGTTGGTGAGCCCGGGGCTAAAGGA c.2220
T G | E P G M R G L P G A V G E P G A K G p.740
| 30. . . . | 31 . . g.43087
GCAATGG | GTCCTGCTGGCCCAGACGGACACCAAGGCCCAAGAG | GTGAACAAGGTCTTACT c.2280
A M G | P A G P D G H Q G P R G | E Q G L T p.760
. . . . . | 32 . g.44112
GGGATGCCTGGAATCCGTGGCCCACCAGGACCTTCTGGAGACCCAGGAAAGCCAG | GTCTC c.2340
G M P G I R G P P G P S G D P G K P G | L p.780
. . | 33 . . . | 34 g.47022
ACAGGACCCCAGGGACCTCAGG | GACTTCCCGGTACCCCTGGCCGACCAGGAATAAAAG | GT c.2400
T G P Q G P Q G | L P G T P G R P G I K G | p.800
. . . | 35 . . . g.47325
GAACCAGGAGCTCCAGGCAAGATCGTGACTTCGG | AGGGGTCATCGATGCTCACTGTCCCA c.2460
E P G A P G K I V T S E | G S S M L T V P p.820
. . . . . | 36 . g.48430
GGCCCCCCAGGACCTCCTGGAGCCATGGGACCCCCAGGACCTCCAGGTGCCCCAG | GCCCT c.2520
G P P G P P G A M G P P G P P G A P G | P p.840
. . . | 37 . . . g.49371
GCCGGCCCAGCTGGTCTCCCAGGACATCAAG | AAGTTCTTAATTTACAAGGTCCCCCAGGC c.2580
A G P A G L P G H Q E | V L N L Q G P P G p.860
. . | 38 . . . . g.49571
CCACCCGGCCCACGCGGGCCACCAG | GGCCTTCCATTCCAGGCCCACCAGGACCCCGAGGC c.2640
P P G P R G P P G | P S I P G P P G P R G p.880
| 39. . . . . . g.49815
CCACCAG | GGGAGGGTTTGCCAGGCCCACCAGGCCCACCAGGATCGTTCCTGTCCAACTCA c.2700
P P G | E G L P G P P G P P G S F L S N S p.900
| 40 . . . . . . g.50529
G | AAACCTTCCTCTCCGGCCCCCCAGGCCCACCTGGCCCCCCAGGTCCCAAGGGAGACCAA c.2760
E | T F L S G P P G P P G P P G P K G D Q p.920
| 41 . . | 42 . . . g.51272
G | GTCCCCCAGGCCCCAGAGGACACCAAG | GCGAGCAAGGCCTCCCAGGTTTCTCAACCTCA c.2820
G | P P G P R G H Q G | E Q G L P G F S T S p.940
| 43 . . . . . . g.51420
G | GGTCCAGTTCTTTCGGACTCAACCTTCAGGGACCACCAGGCCCACCTGGCCCCCAGGGA c.2880
G | S S S F G L N L Q G P P G P P G P Q G p.960
. | 44 . . . . . g.51803
CCCAAAGGTGACAAAG | GTGATCCAGGTGTTCCAGGGGCTCTTGGCATTCCTAGTGGTCCT c.2940
P K G D K G | D P G V P G A L G I P S G P p.980
| 45. . . . . . g.52405
TCTGAAG | GGGGATCATCAAGTACCATGTACGTGTCAGGCCCGCCAGGGCCCCCTGGGCCC c.3000
S E G | G S S S T M Y V S G P P G P P G P p.1000
. . . . . . g.52465
CCTGGGCCTCCGGGCTCTATCAGCAGCTCTGGCCAGGAGATTCAGCAGTACATCTCTGAG c.3060
P G P P G S I S S S G Q E I Q Q Y I S E p.1020
. | 46 . . . . . g.53157
TACATGCAGA | GTGACAGTATTAGATCTTACCTATCCGGAGTTCAGGGTCCCCCAGGCCCA c.3120
Y M Q S | D S I R S Y L S G V Q G P P G P p.1040
. . . . . . g.53217
CCTGGTCCCCCAGGACCTGTCACCACCATCACAGGCGAGACTTTCGACTACTCAGAGCTG c.3180
P G P P G P V T T I T G E T F D Y S E L p.1060
. . | 47 . . . g.53799
GCAAGCCACGTTGTGAGCTACTTACGGA | CTTCGGGGTACGGTGTCAGCTTGTTCTCGTCC c.3240
A S H V V S Y L R T | S G Y G V S L F S S p.1080
. . . | 48. . . g.54271
TCCATCTCTTCTGAAGACATTCTGGCTGTGCTGCAGC | GGGATGACGTGCGTCAGTACCTA c.3300
S I S S E D I L A V L Q R | D D V R Q Y L p.1100
. . . . . . g.54331
CGTCAGTACTTGATGGGCCCTCGGGGTCCGCCAGGGCCACCAGGAGCCAGTGGAGATGGG c.3360
R Q Y L M G P R G P P G P P G A S G D G p.1120
. . . . . | 49 g.55319
TCCCTCCTGTCTTTGGACTATGCAGAGCTGAGTAGTCGCATTCTCAGCTACATGTCGA | GT c.3420
S L L S L D Y A E L S S R I L S Y M S S | p.1140
. . . . . . g.55379
TCTGGGATCAGCATTGGGCTTCCTGGTCCCCCGGGGCCCCCTGGCTTGCCGGGAACCTCC c.3480
S G I S I G L P G P P G P P G L P G T S p.1160
. . | 50 . . . g.55539
TATGAGGAGCTCCTCTCCTTGCTGCGAG | GGTCTGAATTCAGAGGCATCGTTGGACCCCCA c.3540
Y E E L L S L L R G | S E F R G I V G P P p.1180
. . . . . . g.55599
GGTCCCCCGGGTCCACCAGGGATCCCAGGCAATGTGTGGTCCAGCATCAGCGTGGAGGAC c.3600
G P P G P P G I P G N V W S S I S V E D p.1200
. | 51 . . . . g.56154
CTCTCGTCTTACTTACATA | CTGCCGGCTTGTCATTCATCCCAGGCCCTCCAGGACCTCCT c.3660
L S S Y L H T | A G L S F I P G P P G P P p.1220
. . . . . . g.56214
GGTCCCCCAGGGCCTCGAGGGCCCCCGGGTGTCTCAGGAGCCCTGGCAACCTATGCAGCT c.3720
G P P G P R G P P G V S G A L A T Y A A p.1240
. . . . | 52 . . g.56560
GAAAACAGCGACAGCTTCCGGAGCGAGCTGATCAGCTACCTCACAA | GTCCTGATGTGCGC c.3780
E N S D S F R S E L I S Y L T S | P D V R p.1260
. . . . . . g.56620
AGCTTCATTGTTGGCCCCCCAGGCCCTCCTGGGCCGCAGGGACCCCCTGGGGACAGCCGC c.3840
S F I V G P P G P P G P Q G P P G D S R p.1280
. . . . . . g.56680
CTCCTGTCCACGGATGCCTCCCACAGTCGGGGTAGCAGCTCCTCCTCACACAGCTCATCT c.3900
L L S T D A S H S R G S S S S S H S S S p.1300
. . . . . . g.56740
GTCAGGCGGGGCAGCTCCTACAGCTCTTCCATGAGCACAGGAGGAGGTGGTGCAGGCTCC c.3960
V R R G S S Y S S S M S T G G G G A G S p.1320
. . . . . . g.56800
CTGGGTGCAGGCGGTGCCTTTGGTGAAGCTGCAGGAGACAGGGGTCCCTATGGCACTGAC c.4020
L G A G G A F G E A A G D R G P Y G T D p.1340
. . . . . . g.56860
ATCGGCCCAGGCGGAGGCTATGGGGCAGCAGCAGAAGGCGGCATGTATGCTGGCAATGGC c.4080
I G P G G G Y G A A A E G G M Y A G N G p.1360
. . . . . . g.56920
GGACTATTGGGAGCTGACTTTGCTGGAGATCTGGATTACAATGAGCTGGCTGTGAGGGTG c.4140
G L L G A D F A G D L D Y N E L A V R V p.1380
. | 53 . . . . . g.57549
TCAGAGAGCATGCAGC | GTCAGGGCCTACTGCAAGGGATGGCCTACACTGTCCAGGGCCCA c.4200
S E S M Q R | Q G L L Q G M A Y T V Q G P p.1400
. . . . . . g.57609
CCAGGCCAGCCTGGGCCACAGGGGCCACCCGGCATCAGCAAGGTCTTCTCTGCCTACAGC c.4260
P G Q P G P Q G P P G I S K V F S A Y S p.1420
. . . | 54 . . . g.57938
AACGTGACTGCGGACCTCATGGACTTCTTCCAAA | CTTATGGAGCCATTCAAGGACCCCCT c.4320
N V T A D L M D F F Q T | Y G A I Q G P P p.1440
. . . | 55. . . g.58149
GGGCAAAAAGGAGAGATGGGCACTCCAGGACCCAAAG | GTGACAGGGGCCCTGCTGGGCCA c.4380
G Q K G E M G T P G P K G | D R G P A G P p.1460
. . . . . | 56 g.58592
CCAGGTCATCCTGGGCCACCTGGCCCTCGAGGACACAAGGGAGAAAAAGGAGACAAAG | GT c.4440
P G H P G P P G P R G H K G E K G D K G | p.1480
. . . . . g.58646
GACCAAGTCTATGCTGGGCGGAGAAGGAGAAGAAGTATTGCTGTCAAGCCGTGA c.4494
D Q V Y A G R R R R R S I A V K P X p.1497
. . . . . . g.58706
gctagccatggcaggacagctcctggaccaggtctcataatgcatgtggcacttaggtcc c.*60
. . . . . . g.58766
aaggtctccagagggtgaaagctggagtctgtcaatgtcctactgagacagcacagccaa c.*120
. . . . . . g.58826
cctagctagcaacatttgttttagtctgaacaatatatacttatagaattcagtcaaaga c.*180
. . . . . . g.58886
tacacaatctgaaacagcttcatggggtggactctaacagtagttgcaatgttttagaat c.*240
. . . . . . g.58946
gagacttacttctctgctatctagatctgaactccttggcttctttacttagttcaagcc c.*300
. . . . . . g.59006
ccagcctaggaaagccagttacataaaagttggctcaggagtcttagagctttacctaaa c.*360
. . . . . . g.59066
tatgagcccagaaaacggaggatgggggtggggcgccttcctggaggtgacacttgatgg c.*420
. . . . . . g.59126
gggtgtgttctggttactgttctaaggctgtgccatcagctccttcctcccctgttcatt c.*480
. . . . . . g.59186
ctgcattctctagtcagttggctaagaagtgactcttgcaactaaaaaaattaagaaatt c.*540
. . . . . . g.59246
cacttcccctctaggaggtgatgatagggtttctaatggttatatgtatatcacattccc c.*600
. . . . . . g.59306
atttgcttagaaagtctgattgtagctatgattgtccgtaggcccatactagagttcatg c.*660
. . . . . . g.59366
gatatgttatactgaaccaggccagagcaaacagaaaaagaaggttgagggcaatggaca c.*720
. . . . . . g.59426
aggaaggaataaagggagaagagggaaaacagaaaacctgatgctggggacacagcatca c.*780
. . . . . . g.59486
gctcaagacgtcaccctccattctgcactcagaaaatggcacttgggggactgggcgcag c.*840
. . . . . . g.59546
ttggtctttaaccacttttcaatgtctaaaaacatttgtttgtggtctataagatgaaac c.*900
. . . . g.59593
atcatttcaatcgtaaaatttcccattaaagaagtttttttttctaa c.*947
(downstream sequence)
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