(used for variant description)
(last modified May 11, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_144969.2 in the ZDHHC15 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012974.1, covering ZDHHC15 transcript NM_144969.2.
(upstream sequence)
. . . . . g.5058
gtgtgtaactgtgggggggggtagcagggggagagaaagagaacgaagggagacagag c.-421
. . . . . . g.5118
agactgagacagaaacaaagagggcggacgcagtgcagtaagagcagatgggcggaccca c.-361
. . . . . . g.5178
aatttcttcggcttcacgattttgcggaggtctagccctgcatccagccttgaaacaggg c.-301
. . . . . . g.5238
tggggaggaggcagaaaggggagggactgcactccctctgagcgtgctagctccgactgc c.-241
. . . . . . g.5298
ctgacggatcacccttccgctccaacatggctagttcctcaacgccgtgactcaagcctg c.-181
. . . . . . g.5358
ttgtgccaggcagggcgcactcagcagcgcagccccacaggtggcgaaggctccgcgaga c.-121
. . . . . . g.5418
gggttcccgccaggctagacagtggagtgccgcacagcgcgccttccagcctcgcagccg c.-61
. . . . . . g.5478
ccaccctagcggttccgacccggcgccagcaggcctgcttggtcgatcttcgagccaaag c.-1
. . . . . . g.5538
ATGCGGCGAGGCTGGAAGATGGCTCTGTCTGGGGGGCTGCGGTGCTGCCGCCGGGTACTG c.60
M R R G W K M A L S G G L R C C R R V L p.20
. . . . . . g.5598
TCCTGGGTGCCAGTGCTCGTTATTGTCCTCGTCGTGCTCTGGTCCTACTATGCCTACGTC c.120
S W V P V L V I V L V V L W S Y Y A Y V p.40
. | 02 . . . | 03 . . g.49534
TTTGAACTCTGCCTGG | TGACTGTTTTGAGCCCAGCAGAAAAAG | TTATTTACCTCATACTC c.180
F E L C L V | T V L S P A E K V | I Y L I L p.60
. . . . . . g.49594
TACCATGCCATCTTTGTGTTCTTTACCTGGACCTACTGGAAGTCTATCTTTACACTCCCA c.240
Y H A I F V F F T W T Y W K S I F T L P p.80
. | 04 . . . . g.77622
CAGCAGCCAAACCAGAAG | TTCCACTTGTCCTACACAGACAAGGAGCGCTATGAAAATGAA c.300
Q Q P N Q K | F H L S Y T D K E R Y E N E p.100
. . . . . . g.77682
GAAAGACCTGAGGTCCAGAAGCAGATGCTTGTTGATATGGCCAAAAAGCTACCGGTTTAC c.360
E R P E V Q K Q M L V D M A K K L P V Y p.120
. | 05 . . . . g.97023
ACAAGAACTGGAAGTGGAG | CTGTACGATTCTGTGACCGGTGTCATCTGATCAAGCCAGAC c.420
T R T G S G A | V R F C D R C H L I K P D p.140
. . | 06 . . . g.98553
CGCTGCCACCACTGCTCTGTCTGTGCTAT | GTGTGTGTTAAAAATGGATCATCACTGCCCT c.480
R C H H C S V C A M | C V L K M D H H C P p.160
| 07 . . . . . . g.99362
TG | GGTTAATAACTGCATTGGATTTTCCAACTACAAATTCTTCCTTCAATTCTTAGCTTAC c.540
W | V N N C I G F S N Y K F F L Q F L A Y p.180
. . . . . . g.99422
TCTGTTCTCTACTGCCTGTACATTGCTACGACAGTCTTCAGCTATTTCATCAAATACTGG c.600
S V L Y C L Y I A T T V F S Y F I K Y W p.200
| 08 . . . . . . g.103775
AGA | GGGGAATTACCCAGTGTTCGCTCTAAGTTCCATGTCCTTTTTCTTCTCTTTGTGGCC c.660
R | G E L P S V R S K F H V L F L L F V A p.220
. . . . . . g.103835
TGCATGTTTTTTGTCAGCCTTGTGATTCTCTTTGGTTACCATTGTTGGCTTGTCAGCAGA c.720
C M F F V S L V I L F G Y H C W L V S R p.240
. | 09 . . . . . g.106556
AACAAAACCACCTTAG | AGGCCTTCTGCACTCCAGTGTTTACAAGTGGCCCAGAGAAAAAT c.780
N K T T L E | A F C T P V F T S G P E K N p.260
. . . . . . g.106616
GGGTTCAACCTTGGCTTCATCAAGAATATCCAGCAGGTGTTTGGAGATAAGAAGAAGTTC c.840
G F N L G F I K N I Q Q V F G D K K K F p.280
. . | 10 . . . . g.111349
TGGTTAATACCTATTGGTTCCAG | CCCTGGTGATGGACACTCCTTCCCTATGAGGTCTATG c.900
W L I P I G S S | P G D G H S F P M R S M p.300
. . . . . . g.111409
AATGAGTCACAGAACCCACTGCTAGCAAATGAAGAAACCTGGGAAGACAACGAGGATGAC c.960
N E S Q N P L L A N E E T W E D N E D D p.320
| 11. . . . . g.149357
AACCAAG | ATTATCCAGAAGGCTCATCATCTCTTGCTGTGGAAACGGAAACATAG c.1014
N Q D | Y P E G S S S L A V E T E T X p.337
. . . | 12 . . . g.155591
cagttttcacatttcctgcatctctcagacag | gactcaccatctctgcctcccatgaggc c.*60
. . . . . . g.155651
ttacagagttcaatgttggaaatcattgtaatcttcaaaataagtcaccgtgttggattg c.*120
. . . . . . g.155711
aaagcttcaaaatttgaaagaattccatcaaatacttgctgtgtaaatgtttctggactt c.*180
. . . . . . g.155771
tatgttatttaatttactgactgaaatccaatttggaatttggtagcagttaattcaagc c.*240
. . . . . . g.155831
caattttttttgtttcttcatttcccctcccccaatccatgaaagcctaaatgtaaaata c.*300
. . . . . . g.155891
tatcttttcattcatcttatcaggtaaaaggaaattcagaaaatttccttagagtcttta c.*360
. . . . . . g.155951
attcccccacaaagattattaatcacatatatagggcctttttggtgttgaagggaatca c.*420
. . . . . . g.156011
aactacatttgctgcttgtgtgcgtgtgcatttgtgaacacgtacagcatatctatacaa c.*480
. . . . . . g.156071
aattctgctatagtgtgaaaatcagggctaaaaacctgaagcctttgtttaattatgctt c.*540
. . . . . . g.156131
ttcctctaaatagcaacttaaatatttgctagactttgaatcatcgctatatcaagtatc c.*600
. . . . . . g.156191
taaaatttgggagggtgaatcagtacactgtgaccaaggtcctcaaattggaatttgaac c.*660
. . . . . . g.156251
aacaatgtaaaacctgttctgtcacaaatgttcctgaaagcaccacagctactcaagaag c.*720
. . . . . . g.156311
atcaaattcaggacataaactttattgaacataataaccagtgttttttaaagacttttt c.*780
. . . . . . g.156371
tgtcagggtgcagtaaaattctccaattacttttattcatttatctgcttcctagtttta c.*840
. . . . . . g.156431
ttttagcctttatgagttattttatgatgaaagaaaatctataagcctaagttatggccc c.*900
. . . . . . g.156491
ataggttttgttaagggttttcagagtgattttcaggtttaatttcactgcctttcataa c.*960
. . . . . . g.156551
gggtaaagtttcacagctgacattagcctgaggattagcactaaagagctgtgttttcat c.*1020
. . . . . . g.156611
agcaggggctattgtacagacagtgataaccaaatagtaatatgccagttctttcttctt c.*1080
. . . . . . g.156671
tttttagcttcagtagtagctaagccattaatacagtttgcatcaatttccccatttatt c.*1140
. . . . . . g.156731
tataatcagcctttcttttagtcctagtgcctgaatcaatgagtgagaatactagtactg c.*1200
. . . . . . g.156791
attctttacaataataatatcttaagagtattgatatctttcattttttcatccagcagt c.*1260
. . . . . . g.156851
ctagtgcccagctgctgacaataaaagctccaactcttttagagatcagtggaatttaga c.*1320
. . . . . . g.156911
agcatcttacaggtatcaaggaattgagcttctagagggatggtttggcttactaattta c.*1380
. . . . . . g.156971
tcttccctgaaatatgtttgagtaaaaaagagttgcctgccacaatttagtgttggggtt c.*1440
. . . . . . g.157031
ccagtggagctgagaaagtgaacaatccagctacttaaagcaacaacaaaacctgttcat c.*1500
. . . . . . g.157091
ctggatccctaggtaattttgaccaaggtgagacttttggcataaattaaatggattgtg c.*1560
. . . . . . g.157151
gtcagcattacatttgagagaatactagacatgactacacttattagggctagtgacttt c.*1620
. . . . . . g.157211
ctcaaactcagaagctaaaaagcagcctagatgactatgcacacactgggtttcaagatg c.*1680
. . . . . . g.157271
aaatcttcttatatattcagatggaaaaaaatttccccttacactctttctcaaaatact c.*1740
. . . . . . g.157331
ctcatttcggtttttcctgaaaccttatttggccattcccatggttttatgacagacaag c.*1800
. . . . . . g.157391
ccttgtcttctattcatatagatatgcacctttttctacatgtatggcctttacttacta c.*1860
. . . . . . g.157451
cacagcaagtaggcctcaaagtaatcttcctctttcccatcaatcatcttctgccaagca c.*1920
. . . . . . g.157511
ttcaggcagagcagctgttaactgtgattcaaagtcagaaaaacatcaagaacttctttg c.*1980
. . . . . . g.157571
atgcatagggtgtatcagcactcagctcccacagaagtcaagtcacaaaatatagtgtca c.*2040
. . . . . . g.157631
gttaactataaggaagttccggagaggtaaagctcaggaaagatgtaatgcaaagctgat c.*2100
. . . . . . g.157691
tgtttaatgtcttacagatttacactgtctttaaaaggccaaataaggctgggcgcagtg c.*2160
. . . . . . g.157751
gctcacacctgtaatcccaacattttgggagcccaaggcggccggaccacctgaggtcgg c.*2220
. . . . . . g.157811
gagttcaagaccagcctgaccaacatggagaaaccctgtctctactaaaaatacaaaaat c.*2280
. . . . . . g.157871
tagccaggagtgttggtgcatgactgtaatcccagctactcaggaggctgaggcaggaga c.*2340
. . . . . . g.157931
atcgcttgaacctgggaggtagaggttgtggtgagctgagatcgtgccattgcactccgg c.*2400
. . . . . . g.157991
cctgggcaataagagtgaaactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaagccaaa c.*2460
. . . . . . g.158051
taaatcagggttttaccaggggctcagagataaaaagaaaacctattcctatcttagcat c.*2520
. . . . . . g.158111
tttggtctcattggtttatagactctgataatatccctatccatggatcatttgagtatt c.*2580
. . . . . . g.158171
gactaatgtacataggtacccaactggttgattattaatcaagaatacagaactttattt c.*2640
. . . . . . g.158231
aataattagcacaccctgatctggcttctttgcttgcttttctttggatccctgtccaat c.*2700
. . . . . . g.158291
aacctctgtggaatctcattccctaattgttgatactcattttctccgtttgcaaaatga c.*2760
. . . . . . g.158351
agatactcattgttaggatcctactgctgaagggtgctatgtcactttctagtgctctta c.*2820
. . . . . . g.158411
tatgtctttaattataggactggaatgaaaagcttaaccatacagtatttctaagcaaaa c.*2880
. . . . . . g.158471
taatgtactccattcttttgtccatgctctcattgctgatttgttcttgcaggacttaga c.*2940
. . . . . . g.158531
gcactttgttaatgttcttccattcactccaacagcgtcctcagaaagagacagaataaa c.*3000
. . . . . . g.158591
aaaattgttccccatggtacagctggaaaaattaaggggaaaagagattaagtggtcccc c.*3060
. . . . . . g.158651
aatggaacacagctgtcttatgcagggctcacagttaccatgttcagtacattgttaaag c.*3120
. . . . . . g.158711
taacttggcttcccaggactggaattatcatggagcagttagaattttgagagtaattac c.*3180
. . . . . . g.158771
aacaggatcacattctgaaagagtcacattttgtcaaaaatctgaaaagtatgcaatttg c.*3240
. . . . . . g.158831
tacaactcttactttctatgtgataagaatgcaatatgtgcctctttcccctactagccc c.*3300
. . . . . . g.158891
catgtgacacatatttttcacactatgtggcatcaaccagtgccattacctcctgtggca c.*3360
. . . . . . g.158951
ccatagagcccaatctcagggcagacattgccaaggtaaagaatgcactccatgtttata c.*3420
. . . . . . g.159011
ccaaattgcacaaagtatagacattgaggttaatggagatttaagcacaatcctagcaag c.*3480
. . . . . . g.159071
taagttttaagaatactgaatattatacattattgtaacatgaacctaaaattaatttaa c.*3540
. . . . . . g.159131
cagggcccaaattcataggaatgtaacagtcattgaaagcctattcttttcacctctcat c.*3600
. . . . . . g.159191
cacacatatctacatacatgtatgcacatgtacacacacacacacacacacacacacaca c.*3660
. . . . . . g.159251
catacacattttctccaaagcaggctgcctcttcagcaggagcaaatactttaatttaaa c.*3720
. . . . . . g.159311
agaatgattatctgttttctccttttagaaaaagagtctaagaaacacagcatgtgaaga c.*3780
. . . . . . g.159371
acattagatttatacattccagaatctctgctctcagagtagctaagagattcggtacag c.*3840
. . . . . . g.159431
aagacgttctatggagaagcacagggggcatctaatgagattgtcaggcccttggacaag c.*3900
. . . . . . g.159491
atccatattcttagaaaattaatgagttccatctcgttaggaattggttgatgaggtatg c.*3960
. . . . . . g.159551
gtacatctgcatttctttaaccatagctgtaatgtaccatattaaattgtagccttttgc c.*4020
. . . . . . g.159611
atgcgggtattatataataatgaatgggtggctcctagtagcatgcaacccatgactgtt c.*4080
. . . . . . g.159671
tacttccctaaaagggttaggtctgtgtcctgcacagtgttcaaaaccattaaatgtgtt c.*4140
. . . . . . g.159731
ctttgtagcaggatggtacacagccatcagcagaatgagttaaaaccaacaatgaattca c.*4200
. . . . . . g.159791
atataccaggaaatagattgttagtagggaatggcattaaaggaaaaaaaaattagataa c.*4260
. . . . . . g.159851
gatgcattcaaggaataattactttcactctgctggcttaatcagtgaaggaacataaaa c.*4320
. . . . . . g.159911
ggaaagctggcagtgggtcttggtaatatatgaactatattagagtgccagaaaaggaga c.*4380
. . . . . . g.159971
cctcagaagttaagcataggttgccaatctgctacaattatttttcccaccaatctgctc c.*4440
. . . . . . g.160031
aaaatgattgtatatagtattcttaaaaccatgtgtcttggtgcagaaatattgacaaat c.*4500
. . . . . g.160082
gctggccagctttatcttcctatatccttcattaaaagtatatgcatataa c.*4551
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 23
©2004-2020 Leiden University Medical Center