(used for variant description)
(last modified November 30, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_015412.3 in the C3orf17 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering C3orf17 transcript NM_015412.3.
(upstream sequence)
g.5001
a c.-61
. . . . . . g.5061
cctccggtcgctggacgtgctctcgcgtagctccgcctttcgtaagtccccccgcctcgc c.-1
. . . . . . g.5121
ATGATGGCTGCGGTGCCGCCGGGCCTGGAGCCGTGGAACCGTGTGAGAATCCCTAAGGCG c.60
M M A A V P P G L E P W N R V R I P K A p.20
. . . . | 02 . . g.7120
GGGAACCGCAGCGCAGTGACAGTGCAGAACCCCGGCGCGGCCCTTG | ACCTTTGCATTGCA c.120
G N R S A V T V Q N P G A A L D | L C I A p.40
. . . . . . g.7180
GCTGTAATTAAAGAATGCCATCTCGTCATACTGTCGCTGAAGAGCCAAACCTTAGATGCA c.180
A V I K E C H L V I L S L K S Q T L D A p.60
. . . . . . g.7240
GAAACAGATGTGTTATGTGCAGTCCTTTACAGCAATCACAACAGAATGGGCCGCCACAAA c.240
E T D V L C A V L Y S N H N R M G R H K p.80
. . | 03 . . . . g.10715
CCCCATTTGGCCCTCAAACAG | GTTGAGCAATGTTTAAAGCGTTTGAAAAACATGAATTTG c.300
P H L A L K Q | V E Q C L K R L K N M N L p.100
. . . . | 04 . . g.11324
GAGGGCTCAATTCAAGACCTGTTTGAGTTGTTTTCTTCCAA | TGAAAATCAGCCCTTAACT c.360
E G S I Q D L F E L F S S N | E N Q P L T p.120
. . . . . . g.11384
ACCAAAGTATGTGTTGTCCCCAGTCAGCCAGTGGTGGAGTTGGTGTTGATGAAGGTTTTG c.420
T K V C V V P S Q P V V E L V L M K V L p.140
. . . . . | 05 . g.11904
GGAGCCTGCAAGTTGTTGCTCCGCTTGTTGGACTGCTGCTGCAAAACTTTTCT | TTTGACT c.480
G A C K L L L R L L D C C C K T F L | L T p.160
. . . . . . g.11964
GTGAAACATCTAGGTTTGCAAGAGTTCATTATTTTAAACCTTGTGATGGTTGGGCTGGTG c.540
V K H L G L Q E F I I L N L V M V G L V p.180
. | 06 . . . . . g.13351
AGCAGGTTATG | GGTTCTCTATAAAGGTGTCTTAAAAAGGTTGATTTTGTTATATGAGCCT c.600
S R L W | V L Y K G V L K R L I L L Y E P p.200
. . . . . . g.13411
TTGTTTGGATTGCTTCAAGAGGTCGCTAGGATTCAACCAATGCCTTACTTCAAAGATTTT c.660
L F G L L Q E V A R I Q P M P Y F K D F p.220
. . . . . . g.13471
ACCTTTCCTTCTGATATCACTGAATTTTTAGGACAGCCATATTTTGAAGCCTTTAAGAAA c.720
T F P S D I T E F L G Q P Y F E A F K K p.240
. . . . . . g.13531
AAAATGCCTATAGCTTTTGCAGCTAAAGGAATAAATAAATTGCTAAATAAACTGTTTTTA c.780
K M P I A F A A K G I N K L L N K L F L p.260
. . . . . . g.13591
ATAAATGAGCAGTCACCAAGAGCCAGTGAAGAAACCTTGCTTGGAATTTCAAAAAAAGCT c.840
I N E Q S P R A S E E T L L G I S K K A p.280
. . . . . . g.13651
AAACAAATGAAGATCAATGTACAGAATAATGTGGATCTTGGACAGCCAGTAAAGAATAAG c.900
K Q M K I N V Q N N V D L G Q P V K N K p.300
. | 07 . . . . . g.14051
AGAGTCTTCAAAG | AAGAGTCATCAGAATTTGATGTGAGGGCTTTCTGCAACCAGCTGAAA c.960
R V F K E | E S S E F D V R A F C N Q L K p.320
. | 08 . . . . . g.16323
CACAAAGCTACTCAG | GAGACCAGTTTTGATTTTAAATGTTCTCAATCCAGACTAAAGACA c.1020
H K A T Q | E T S F D F K C S Q S R L K T p.340
. . . . . . g.16383
ACCAAGTATTCTTCTCAGAAAGTGATAGGAACTCCTCATGCCAAAAGTTTTGTGCAAAGA c.1080
T K Y S S Q K V I G T P H A K S F V Q R p.360
. . . . . . g.16443
TTCCGAGAGGCTGAGTCCTTCACACAACTTTCTGAAGAAATCCAGATGGCAGTTGTATGG c.1140
F R E A E S F T Q L S E E I Q M A V V W p.380
. . . . . . g.16503
TGCAGGAGCAAAAAACTCAAGGCTCAGGCCATTTTTCTGGGTAACAAACTTCTTAAAAGC c.1200
C R S K K L K A Q A I F L G N K L L K S p.400
. . . | 09 . . . g.18729
AACCGGCTTAAACATCTGGAAGCTCAAGGTACTAG | TTTGCCAAAGAAACTAGAGTGCATA c.1260
N R L K H L E A Q G T S | L P K K L E C I p.420
. . . . . . g.18789
AAAACGTCTATTTGCAACCACCTTCTTCGTGGCTCAGGTATCAAAACTTCAAAGCATCAT c.1320
K T S I C N H L L R G S G I K T S K H H p.440
. . . . . . g.18849
CTGAGACAGAGAAGATCACAGAATAAATTTTTACGGAGACAAAGGAAACCACAGAGAAAG c.1380
L R Q R R S Q N K F L R R Q R K P Q R K p.460
. . . . . . g.18909
TTGCAGTCGACTCTTTTAAGGGAAATTCAGCAGTTCTCTCAAGGGACTCGGAAGAGTGCT c.1440
L Q S T L L R E I Q Q F S Q G T R K S A p.480
. . . . . . g.18969
ACAGATACCAGTGCTAAGTGGAGACTCTCACACTGTACTGTGCATAGAACTGATCTCTAC c.1500
T D T S A K W R L S H C T V H R T D L Y p.500
. . . . . . g.19029
CCTAACAGTAAGCAGCTCTTGAATAGTGGAGTTTCAATGCCTGTCATACAAACTAAGGAG c.1560
P N S K Q L L N S G V S M P V I Q T K E p.520
. . . . . . g.19089
AAAATGATTCATGAAAATCTTAGAGGCATCCATGAAAATGAAACTGATTCGTGGACGGTG c.1620
K M I H E N L R G I H E N E T D S W T V p.540
. . . . . . g.19149
ATGCAAATAAATAAAAACAGTACATCAGGAACCATTAAGGAGACAGATGACATTGATGAT c.1680
M Q I N K N S T S G T I K E T D D I D D p.560
. . g.19173
ATTTTTGCTTTAATGGGAGTTTAG c.1704
I F A L M G V X p.567
. . . . . . g.19233
atgttcgttcatatgtgagacttttaagtgattaacaaggctagttcagtgttctaagta c.*60
. . . . . . g.19293
gaactgctaagatctggaagtaccacctggactcacagaggagctgctttagtgcagcat c.*120
. . . . . . g.19353
tgcacaggagttcatttcagttcagtctacatttaaagtagcattgtgtcatttcatcaa c.*180
. . . . . . g.19413
caagtatttcttttttggcttcaactacatgtcaggtgttaatatgaaaaatctgccaca c.*240
. . . . . . g.19473
gcctacccttgagaagcagatgtaattccttgagtgaggctagtaagtctctgaaaaact c.*300
. . . . . . g.19533
gaataattttatgacttactaggcaatttaataatcgtttgcaaaaaccattgtgtcttg c.*360
. . . . . . g.19593
aggtaaatgaggagcgggggtgggagatagcaaggaaacacctgaaaggtcaatttggtc c.*420
. . . . . . g.19653
ttattggctccattatacataggtccgcctctgaatactaaagtttgtagctcctgacat c.*480
. . . . . . g.19713
ttatgttttcttgtttatatgttggaattgatcaacaaggtttgccactgcttgtattac c.*540
. . . . . . g.19773
cagggactggttacaaccattatttctcttcatttgcttggcttatctcatattaaagtg c.*600
. . . . . . g.19833
agtttggagttctccaaaacgttttaattttatttatttgggtaccagtgattgattcca c.*660
. . . . . . g.19893
aataaacctttttacaaaaaggcaataaggtggtttatggttacatatgaaatataatag c.*720
. . . . . . g.19953
gataacaggtagatgagaaagtaaaatgaaaaaatgaggttaggagatacaaagtagacc c.*780
. . . . . . g.20013
caggaatgaggctagaacatttataatttggtgttgatgctgtcatctgataggggatgt c.*840
. . . . . . g.20073
tgctcgtactgttgctctgaggggagtacatcttgagtattttcaaataatgatgtgaag c.*900
. . . . . . g.20133
tttgaggtaggtatctttccaatgttctaactttactagaattaggttattaagcttctc c.*960
. . . . . . g.20193
tagtgcccttaacttttgttacatagagatttaaagaaaaagaaagtagtaccttagtat c.*1020
. . . . . . g.20253
gtaccgcatccttcttttcctcagccaccctatcataacagaagttatttcccttccatt c.*1080
. . . . . . g.20313
ctttatttggctttgttctttccctgtctgccttctccattttctcagttatctctacca c.*1140
. . . . . . g.20373
gtggttctcaaactttagactttttgagaatcacctggtgggttgctaaaagatgcagat c.*1200
. . . . . . g.20433
tagccctttcccagagactgataaacaggggccagaaacctgcatttttaacatggagcc c.*1260
. . . . . . g.20493
caagtgattttgatccaggtggcccccaaatccagttatataaacactactttagcttct c.*1320
. . . . . . g.20553
ctcctgaagccttaagtaaactggtttaattcttaatctgtagtcagttttcatattcct c.*1380
. . . . . . g.20613
tttggctttctaccaagtggtagtatccatttagtgccttaaaatacagacaataccaag c.*1440
. . . . . . g.20673
gagatttcattctagacaagtctagaaatggccattaacttctaagtgtccttgtgttca c.*1500
. . . . . . g.20733
atgaatatcctttacctattgggaaatagaaggtaaattagtaagagaactggtgtatag c.*1560
. . . . . . g.20793
ctttgtggaccatagggcttatttgctgagagttgtctatattcatgcacccagtcccct c.*1620
. . . . . . g.20853
aagtagcctcttttaatacttcatttagctgattcagaaaaaaactccctgggaattagg c.*1680
. . . . . . g.20913
agatttaaggttcagtcttgcttctcctacttgtggcttcactgagctagtcagtttcct c.*1740
. . . . . . g.20973
caggcttaggtttctggatttgaagtggaattttttcaagaatgaaacttttatagctga c.*1800
. . . . . . g.21033
aataaactttggagcttatctttcattggaaaaaccagggtggttcagtgagttaaggac c.*1860
. . . . . . g.21093
aatatagcatggactgggctgccagtctagcatttgtttccaaattcattcatgttcttt c.*1920
. . . . . . g.21153
tggagtatcttcatctcctctcattttcccatcttctgccctttactattctgggaaaat c.*1980
. . . . . . g.21213
ggcaaaaaagcttcacatgtgtccacaaaatgacaatttgtatgtttataaggaattcag c.*2040
. . . . . . g.21273
tattctgtatcagttactttttccaaataaatccaaatatttaacatttaaaaaaatgca c.*2100
. . . . . . g.21333
atctaaagtataccaaactgtaacttacctagtaaatgagattagaaactattgtcaggg c.*2160
. . . . . . g.21393
tcatcgtagtgaattattattattattattttttgagacagagtcttgtgctgttgccca c.*2220
. . . . . . g.21453
ggctggagcacagtggtatgatctcagttcactgcaccctccacctcctgggctcaagct c.*2280
. . . . . . g.21513
attctcccacctcagccgcctgagtagctgacactataggcaccaccatgccctggctaa c.*2340
. . . . . . g.21573
ttttttaaaaactttgtgtagagatagggtttcaccatgttgcttaggctggtctcaaac c.*2400
. . . . . . g.21633
tcctggactcaagggatccacccactttggtctcccaaagtgctgggattacccacatcc c.*2460
. . . . . . g.21693
tagtaccaactttatcacttctgatggcattaggacacacaggccatttataagagcagt c.*2520
. . . . . . g.21753
gtttgagacctcctgtgtgtcacttccaatcctcttggccttcatactaaagtcactgct c.*2580
. . . . . . g.21813
gtggcaaccagtttcaagcagggctgaaccttgcctcttgctctggggatgtctcacttc c.*2640
. . . . . . g.21873
ctgcccctgggcttctcaccagctacaggaactgcctagcacttgggtatgtacaacctg c.*2700
. . . . . . g.21933
gaagaggtgtggggccaccccatcccctcctcaaagaaattcacaggcacagtatgaggc c.*2760
. . . . . . g.21993
taaagtaacttccatcttggatgctaatctaccatgttgacttctgataaccagttcctg c.*2820
. . . . . . g.22053
gaatgccctctaagatttctacttttatctattaaaagaacacacacacacacacacact c.*2880
. . . . . . g.22113
gtaaatcctggccttaagcaagttataggctaagttgtaaacagcattcttgcctttccc c.*2940
. . . . . . g.22173
tgaggaggtgacttcagtgtctcacatgttccttcatgtacccccttttctctatggcat c.*3000
. . . . . . g.22233
ataagccctgggtcggggggtaactgtggggatcactgcctgagacatggcttctgtgca c.*3060
. . . g.22265
taagtccctattaaatgtttctttctgacaaa c.*3092
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 28
©2004-2022 Leiden University Medical Center