(used for variant description)
(last modified January 31, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001030311.2 in the CERKL gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021178.1, covering CERKL transcript NM_001030311.2.
(upstream sequence)
. . . . g.5041
gcagcgctggacgcggctagagctggggctgccgcgccctc c.-61
. . . . . . g.5101
cacctccttctccaaaggcctccccggacccctggctcgggcccagcctgcgactccgcc c.-1
. . . . . . g.5161
ATGCCCTGGAGGAGGCGCAGGAACCGGGTGAGTGCCCTGGAGGGCGGCCGGGAGGAAGAG c.60
M P W R R R R N R V S A L E G G R E E E p.20
. . . . . . g.5221
GCGCCCCCGGAGGCTGCCGCTGTGCCTCCGGCGCTGTTAACGTCCCCGCAGCAGACGGAG c.120
A P P E A A A V P P A L L T S P Q Q T E p.40
. . . . . . g.5281
GCGGCGGCCGAGCGGATTCTGCTCCGGGGCATCTTCGAGATCGGGAGGGACAGTTGTGAC c.180
A A A E R I L L R G I F E I G R D S C D p.60
. . . . . | 02 g.58030
GTGGTGCTGAGCGAGCGAGCACTGCGGTGGCGGCCCATTCAGCCCGAGCGCCCGGCGG | GT c.240
V V L S E R A L R W R P I Q P E R P A G | p.80
. . . . . . g.58090
GATTCTAAGTATGACTTGCTATGTAAAGAAGAATTTATTGAACTCAAAGACATATTCTCT c.300
D S K Y D L L C K E E F I E L K D I F S p.100
. . . . . . g.58150
GTGAAACTGAAACGGCGTTGTTCTGTTAAACAGCAGAGAAGTGGTACTTTATTAGGTATC c.360
V K L K R R C S V K Q Q R S G T L L G I p.120
. . . . . . g.58210
ACACTCTTCATCTGCTTGAAAAAGGAACAAAATAAACTAAAGAATTCTACACTTGATCTT c.420
T L F I C L K K E Q N K L K N S T L D L p.140
. . . . . . g.58270
ATTAATTTAAGTGAAGACCACTGTGACATATGGTTTAGACAGTTCAAGAAAATATTGGCA c.480
I N L S E D H C D I W F R Q F K K I L A p.160
| 03 . . . . . . g.88282
G | GCTTTCCAAACAGACCGAAGTCATTAAAAATACTCCTTAACCCCCAAAGTCACAAAAAA c.540
G | F P N R P K S L K I L L N P Q S H K K p.180
. . . . . . g.88342
GAAGCTACCCAGGTTTATTATGAGAAGGTTGAACCTCTGTTGAAGCTTGCAGGAATAAAA c.600
E A T Q V Y Y E K V E P L L K L A G I K p.200
. | 04 . . . . . g.96033
ACTGATGTAACAA | TAATGGAATATGAAGGGCACGCTCTGTCACTGCTTAAGGAATGTGAA c.660
T D V T I | M E Y E G H A L S L L K E C E p.220
. | 05. . . . . g.96640
CTCCAGGGATTTGATGG | TGGGCATCGGAAACCATTGTTCGCAATACATTGGAGTGTACAG c.720
L Q G F D G | G H R K P L F A I H W S V Q p.240
. . . | 06 . . . g.103424
AGATTGTTCACTGGCATGCAAACGTTAGAACCAAG | TGTTGTCTGTGTTGGTGGAGATGGA c.780
R L F T G M Q T L E P S | V V C V G G D G p.260
. . . . . . g.103484
TCTGCTAGCGAAGTAGCCCATGCTTTGCTTCTGAGAGCTCAGAAGAATGCTGGGATGGAA c.840
S A S E V A H A L L L R A Q K N A G M E p.280
. . . . . | 07 g.112401
ACAGACCGAATCCTGACTCCTGTCAGAGCACAGCTTCCACTTGGCTTAATACCAGCAG | GA c.900
T D R I L T P V R A Q L P L G L I P A G | p.300
. . . . . . g.112461
TCTACCAATGTATTGGCACATTCTCTTCATGGAGTTCCTCATGTGATAACTGCAACATTG c.960
S T N V L A H S L H G V P H V I T A T L p.320
. | 08 . . . . . g.113297
CACATTATAATGG | GGCATGTACAGCTGGTCGACGTCTGCACCTTCAGCACCGCTGGCAAG c.1020
H I I M G | H V Q L V D V C T F S T A G K p.340
. . . . . . g.113357
CTTCTTCGCTTTGGGTTCTCAGCCATGTTTGGCTTTGGTGGAAGAACTTTGGCTCTGGCA c.1080
L L R F G F S A M F G F G G R T L A L A p.360
. . . . . . g.113417
GAAAAATATCGATGGATGTCCCCTAACCAACGGAGAGATTTTGCTGTTGTTAAGGCACTG c.1140
E K Y R W M S P N Q R R D F A V V K A L p.380
. | 09 . . . . . g.113552
GCAAAACTTAA | GGCAGAAGACTGTGAAATATCATTTTTACCATTTAACAGCTCTGATGAT c.1200
A K L K | A E D C E I S F L P F N S S D D p.400
. | 10 . . | 11. . . g.114404
GTGCAAGAAAG | GAGGGCACAGGGATCTCCCAAATCTG | ACTGTAATGATCAATGGCAAATG c.1260
V Q E R | R A Q G S P K S D | C N D Q W Q M p.420
. . . . . . g.114464
ATCCAGGGTCAGTTCTTGAATGTCAGCATTATGGCAATTCCTTGCCTGTGTTCAGTGGCA c.1320
I Q G Q F L N V S I M A I P C L C S V A p.440
. . | 12 . . . . g.117345
CCTAGAGGCTTGGCACCTAATACCAG | ATTAAATAATGGAAGTATGGCTCTTATAATTGCC c.1380
P R G L A P N T R | L N N G S M A L I I A p.460
. . . . . . g.117405
CGAAACACTTCTCGGCCAGAATTTATAAAACACCTGAAAAGATATGCCAGTGTAAAAAAT c.1440
R N T S R P E F I K H L K R Y A S V K N p.480
| 13 . . . . . . g.122900
CAG | TTCAATTTTCCATTTGTTGAGACTTACACTGTTGAGGAAGTAAAAGTTCATCCAAGG c.1500
Q | F N F P F V E T Y T V E E V K V H P R p.500
. . . . . . g.122960
AATAATACTGGTGGATATAATCCAGAGGAGGAGGAGGATGAAACTGCTTCAGAAAATTGT c.1560
N N T G G Y N P E E E E D E T A S E N C p.520
. . . . . | 14 . g.123867
TTCCCTTGGAATGTAGATGGTGACTTAATGGAAGTTGCATCAGAGGTCCATATTAG | ATTG c.1620
F P W N V D G D L M E V A S E V H I R | L p.540
. . . . . g.123924
CATCCAAGACTTATCAGTCTTTATGGAGGAAGCATGGAAGAAATGATTCCAAAGTAA c.1677
H P R L I S L Y G G S M E E M I P K X p.558
. . . . . . g.123984
catgtaattgtttctaaaagaaatgtacaaactagaattttaatataaagaaatgtggcc c.*60
. . . . . . g.124044
atgctttaaacctgtggtccccaccctttttgggaccagtttcatggaagacaatttttc c.*120
. . . . . . g.124104
cgtggatgggggaatggtttcaggatgaactgttccacctcagatcatcaggcattagat c.*180
. . . . . . g.124164
tctcttgaggaacatggcactctagatccctcacataccagttcaccatatggttcgcac c.*240
. . . . . . g.124224
ttctatgagaatctaatgctgctgctgatctgacagggggaggaactcagtaatgctcca c.*300
. . . . . . g.124284
ttgctctaacctcctgctgtgtggccaaacggatatcctaatagaaattgatgttactaa c.*360
. . . . . . g.124344
caattagcctctagggctttaaaagtcaagatgaaatatcaattcaaattctgtttttag c.*420
. . . . . . g.124404
atatcaattcaaattcttttttttacaatgtgtttattggacacacaaaaaaactttgca c.*480
. . . . . . g.124464
accatcataatacatcaatatttaacctagataattctgaaataatttggattctttcat c.*540
. . . . . . g.124524
ttttcaggatttgagctcatcaattatgttaaatttcctatattctgttacaaatataat c.*600
. . . . . . g.124584
acagatttcataagtctgccttgattcactgctccctaatccagagcagttaaatttcaa c.*660
. . . . . . g.124644
aatcacatagttatatagcctacctgccaaaaaagaataacccatccctgtcttcttaaa c.*720
. . . . . . g.124704
gtggtagggttttaaaattcatgatacaagtaacaaagtaagttgataacaaatactatt c.*780
. . . . . . g.124764
ttgaactgggcaaaatctagcccaatatgtaattgtgttccccttgtatctgagaggcct c.*840
. . . . . . g.124824
gtgttggacaaccatagtactctgctttcactgtgctcagataacctgaaatatatagtt c.*900
. . . . . . g.124884
gtttctgagtagttctgagtaggaaagaaccaaatgtaaatttccttagagaccatcctg c.*960
. . . . . . g.124944
gagaagacagttctaaatcggggcttgatttttcatctatgatcctagatgttctcctga c.*1020
. . . . . . g.125004
aagaatgactagcctttttataacgatacaaagttttttaaaaatacataaatgtcataa c.*1080
. . . . . . g.125064
agtttattcctgtgtatacacactctgggttcaggaggttttgtgcttacatttcactac c.*1140
. . . . . . g.125124
tcaaatgccttcgcaaatctcagaacattcctcaccatcactgcaggcctgtgaacagat c.*1200
. . . . . . g.125184
aactttcatcaattaggatggctggctagtggcagggacttcatataaagaaatctttcc c.*1260
. . . . . . g.125244
cagaattgtttttccacattgccttctaatttgatcactccctataacagatgttcaaaa c.*1320
. . . . . . g.125304
ttcggccacagctctcttatgaaggcagagtcagataaaatgatattctgcaattatcta c.*1380
. . . . . . g.125364
gatcataagcataaaataaatattacaaaaatgattgtatttaaagaaattttttaaaat c.*1440
. . . . . . g.125424
ccagaaagtcatttaaaatagaacctcatatagtatgaacaaactataaaaatattttac c.*1500
. g.125436
atttcatgaaaa c.*1512
(downstream sequence)
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