(used for variant description)
(last modified November 26, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_015910.5 in the WDPCP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028144.2, covering WDPCP transcript NM_015910.5.
(upstream sequence)
. . . . g.5042
aaacggatggtttgggctcaggaggaaaggacctgcctgatg c.-421
. . . . . . g.5102
gagcccggcaattggcgggagagatagcgtgtgtaactctagggaggggagaatcacccc c.-361
. . . . . . g.5162
ttagcgacatcacccccacgcgcgtgactgagactgcatcctcccatgagggtaaacgtg c.-301
. . . . . . g.5222
ggaggtaaagagaccttccgctgcgtaaagctggatcgacccggaaacaaaatcttttaa c.-241
. . . . . . g.5282
aaaacgattgacactctggaggggcgggggaattgataagttgggacgaccggacagctt c.-181
. . . . . . g.5342
ctcaggttgctaagcgacgaggcgggagcgcacgcacaccctggctgctttgtagcacct c.-121
. . . . . . g.5402
gaggaaactgtggcggcggcggcggcgtcctggagacccaagagaccaagcgagcgtgtc c.-61
. . . . . . g.5462
gctccctctcgggtccgaggacctagcctaggaaccttctgcccggggtagtgtctggtg c.-1
. . . . . . g.5522
ATGAGGCGAGAGTTTTGCTGGGACGCCTACTCCAAAGCGGCCGGGAGTCGCGCTTCTTCC c.60
M R R E F C W D A Y S K A A G S R A S S p.20
. | 02 . . . . . g.100838
CCACTCCCGAGACAG | GATAGAGATTCCTTCTGCCATCAGATGTCTTTCTGCTTGACTGAA c.120
P L P R Q | D R D S F C H Q M S F C L T E p.40
. . . . | 03 . . g.106259
CTGCACCTGTGGTCTTTGAAGAATACCTTACACATTGCGG | ATAGAGACATTGGGATCTAC c.180
L H L W S L K N T L H I A D | R D I G I Y p.60
. . | 04 . . . g.107179
CAGTATTATGACAAGAAAGATCCACCAG | CGACAGAGCATGGTAACTTAGAAAAGAAGCAG c.240
Q Y Y D K K D P P A | T E H G N L E K K Q p.80
. | 05 . . . . . g.108793
AAGCTGGCAGAGT | CACGAGATTATCCTTGGACGCTCAAAAACAGACGCCCAGAAAAACTC c.300
K L A E S | R D Y P W T L K N R R P E K L p.100
. . | 06 . . . . g.109106
CGAGACTCGCTCAAAGAGTTGGAG | GAGCTGATGCAAAACAGTCGGTGTGTGCTGAGCAAA c.360
R D S L K E L E | E L M Q N S R C V L S K p.120
. . | 07 . . . . g.153898
TGGAAGAACAAATATGTCTGTCAG | CTCCTTTTTGGTTCAGGTGTGCTGGTGTCTCTAAGC c.420
W K N K Y V C Q | L L F G S G V L V S L S p.140
. . . . . . g.153958
CTTTCTGGGCCGCAGCTGGAGAAAGTGGTGATTGACAGAAGCCTGGTGGGGAAGCTCATC c.480
L S G P Q L E K V V I D R S L V G K L I p.160
. | 08 . . . . g.156220
TCAGACACCATCAGTGATG | CTCTTCTCACAGACAGTTTTATCATCTTATCATTTTTGGCA c.540
S D T I S D A | L L T D S F I I L S F L A p.180
. . . . . . g.156280
CAAAACAAACTATGTTTTATTCAGTTTACCAAGAAGATGGAGTCTTCTGATGTAAACAAA c.600
Q N K L C F I Q F T K K M E S S D V N K p.200
. . . | 09 . . . g.159824
AGACTGGAAAAACTCTCAGCCTTGGATTATAAG | ATTTTCTATTATGAAATACCCGGCCCA c.660
R L E K L S A L D Y K | I F Y Y E I P G P p.220
. . . . . . g.159884
ATAAACAAGACAACAGAGCGACATCTAGCTATCAACTGTGTTCATGATAGAGTTGTTTGC c.720
I N K T T E R H L A I N C V H D R V V C p.240
. . . . . . g.159944
TGGTGGCCACTGGTCAACGATGATGCTTGGCCTTGGGCCCCCATTTCTTCTGAGAAGGAC c.780
W W P L V N D D A W P W A P I S S E K D p.260
. . . . | 10 . . g.189090
AGAGCCAATCTACTCCTCCTGGGTTATGCTCAAGGAAGACTAGAG | GTTCTGAGTTCTGTC c.840
R A N L L L L G Y A Q G R L E | V L S S V p.280
. . . . . . g.189150
CGCACAGAATGGGACCCACTGGATGTTCGCTTTGGCACCAAACAGCCTTATCAGGTGTTC c.900
R T E W D P L D V R F G T K Q P Y Q V F p.300
. . . . . . g.189210
ACAGTGGAGCACTCCGTAAGTGTAGACAAAGAGCCCATGGCTGACAGCTGCATCTATGAA c.960
T V E H S V S V D K E P M A D S C I Y E p.320
. . . . . . g.189270
TGCATTCGGAATAAAATCCAGTGTGTGTCAGTCACCAGAATACCACTAAAGTCAAAGGCC c.1020
C I R N K I Q C V S V T R I P L K S K A p.340
. . . . . . g.189330
ATCAGCTGCTGCAGGAATGTTACTGAAGACAAACTGATTCTGGGCTGTGAAGATTCTTCG c.1080
I S C C R N V T E D K L I L G C E D S S p.360
. . . . . . g.189390
CTAATTCTTTATGAAACTCACCGTAGAGTGACTCTCTTAGCACAGACTGAACTTTTGCCT c.1140
L I L Y E T H R R V T L L A Q T E L L P p.380
. . . . . . g.189450
TCATTAATAAGCTGCCACCCAAGTGGTGCCATTCTGCTAGTTGGCAGCAACCAAGGGGAG c.1200
S L I S C H P S G A I L L V G S N Q G E p.400
. . . . . . g.189510
TTGCAAATTTTTGATATGGCTCTATCCCCTATTAACATCCAACTGTTGGCTGAAGACCGC c.1260
L Q I F D M A L S P I N I Q L L A E D R p.420
. . . . . . g.189570
TTACCCAGGGAGACTCTGCAATTCAGTAAATTATTTGATGCCTCCAGCAGTCTTGTTCAA c.1320
L P R E T L Q F S K L F D A S S S L V Q p.440
. . . . . . g.189630
ATGCAATGGATAGCTCCTCAGGTTGTTTCTCAGAAGGGTGAAGGTAGTGATATCTATGAT c.1380
M Q W I A P Q V V S Q K G E G S D I Y D p.460
. . . . . | 11 . g.211643
CTCCTCTTCCTCAGGTTTGAAAGAGGACCTTTGGGTGTGCTGTTGTTTAAACTAG | GCGTC c.1440
L L F L R F E R G P L G V L L F K L G | V p.480
. . . . . . g.211703
TTCACTCGAGGACAGCTGGGCCTGATAGACATCATCTTCCAGTACATTCACTGTGATGAG c.1500
F T R G Q L G L I D I I F Q Y I H C D E p.500
. . . . . . g.211763
ATCTATGAGGCAATAAACATCCTGAGCAGCATGAACTGGGACACTCTGGGCCACCAGTGC c.1560
I Y E A I N I L S S M N W D T L G H Q C p.520
. . . . . . g.211823
TTTATCAGCATGAGCGCCATTGTAAACCATCTTCTTAGACAGAAGCTCACTCCAGAGAGA c.1620
F I S M S A I V N H L L R Q K L T P E R p.540
| 12 . . . . . . g.215279
GAAG | CACAGCTTGAGACAAGCCTTGGAACCTTCTATGCTCCAACAAGACCACTTCTGGAT c.1680
E A | Q L E T S L G T F Y A P T R P L L D p.560
. . . . . . g.215339
TCCACTATATTGGAATATAGAGATCAAATCAGCAAATATGCAAGGAGATTCTTCCATCAC c.1740
S T I L E Y R D Q I S K Y A R R F F H H p.580
| 13 . . . . . g.280473
TTGCTCAG | GTACCAGAGGTTTGAAAAGGCATTTCTCCTAGCTGTTGACGTTGGTGCTCGT c.1800
L L R | Y Q R F E K A F L L A V D V G A R p.600
. | 14 . . . . . g.334371
GACCTCTTTATG | GATATTCATTACCTTGCACTAGATAAAGGTGAATTGGCACTAGCTGAA c.1860
D L F M | D I H Y L A L D K G E L A L A E p.620
. . . . . | 15 . g.418905
GTGGCAAGAAAAAGAGCTAGTGACATTGATGCAGAATCAATAACCTCTGGGGTTG | AACTC c.1920
V A R K R A S D I D A E S I T S G V E | L p.640
. . . . . . g.418965
CTGGGACCCTTGGACAGAGGGGATATGCTAAATGAAGCATTTATTGGCCTGTCTTTAGCA c.1980
L G P L D R G D M L N E A F I G L S L A p.660
. . . . . . g.419025
CCTCAAGGAGAAGACTCATTTCCAGATAACCTCCCTCCCTCTTGCCCAACCCACAGACAT c.2040
P Q G E D S F P D N L P P S C P T H R H p.680
. . . | 16 . . g.440180
ATTTTACAACAAAGAATACTGAATGGCTCTTCTAACAG | ACAAATAATTGACAGAAGGAAT c.2100
I L Q Q R I L N G S S N R | Q I I D R R N p.700
. . . . . | 17 g.440789
GAACTTGAAAAAGACATCTGTTCTGGATTTTTGATGACTAATACCTGTAATGCAGAAG | AC c.2160
E L E K D I C S G F L M T N T C N A E D | p.720
. . . | 18 . . . g.471706
GGAGAACTGAGAGAAGACGGCAGAGAACAG | GAAATCAGAGATGGTGGTTCTCTCAAAATG c.2220
G E L R E D G R E Q | E I R D G G S L K M p.740
. . g.471727
ATTCACTTTGGTCTGGTGTAA c.2241
I H F G L V X p.746
. . . . . . g.471787
acattaagaaaaaaagaaaactgccttcttcatatctaaacttttcatggcctgatacag c.*60
. . . . . . g.471847
acttaaaatcccccgtgtggatttttaacaagagacagtatgaatcatataaattagtta c.*120
. . . . . . g.471907
agagttttgagttgagtgtttgttttcaaaataaagttttattatttcaaaaacatgcag c.*180
. . . . . . g.471967
cataacagcaaagtgatcgtaagtaaaagtcttcaacctacttattttcaataatgtaaa c.*240
. . . . . . g.472027
attttgaaagtgtcttaaattgtatgttaattaggtgctacaaaaatagaatatttaaac c.*300
. . . . . . g.472087
tttgttctcccaggtactttaaaaaaggggcagtagggggcaggcatagtgctcatgcct c.*360
. . . . . . g.472147
gtagtcccagtgctttaggaggccaaggctgaaggatcacttgagcccaggagttcaaga c.*420
. . . . . . g.472207
ctagcctgtgcaacatagtgaaacgctgtctctagaaaaaattttaaaaattagccaggc c.*480
. . . . . . g.472267
atggtggtacatgcttgtgaagctgaggcagaagaattgcttgagcccaggagttcaagg c.*540
. . . . . . g.472327
ctacagtgagctgtgatcgcgccactgcactctaacctgggcaacagagagtgaccctgt c.*600
. . g.472350
ctccaaaaaaaaaaaaaaaaaaa c.*623
(downstream sequence)
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