(used for variant description)
(last modified June 15, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_001033855.1 in the DCLRE1C gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering DCLRE1C transcript NM_001033855.1.
(upstream sequence)
. . g.5025
gcttcccggaagtggcggcgcggtc c.-61
. . . . . . g.5085
agggctggccttggcttcagctgcggttttggggtcccggactctgggatcggcggcgct c.-1
. . . . . . g.5145
ATGAGTTCTTTCGAGGGGCAGATGGCCGAGTATCCAACTATCTCCATAGACCGCTTCGAT c.60
M S S F E G Q M A E Y P T I S I D R F D p.20
. . . . | 02 . g.10019
AGGGAGAACCTGAGGGCCCGCGCCTACTTCCTGTCCCACTGCCACAAAG | ATCACATGAAA c.120
R E N L R A R A Y F L S H C H K D | H M K p.40
. . . . | 03 . . g.13925
GGATTAAGAGCCCCTACCTTGAAAAGAAGGTTGGAGTGCAG | CTTGAAGGTTTATCTATAC c.180
G L R A P T L K R R L E C S | L K V Y L Y p.60
. . . . . . g.13985
TGTTCACCTGTGACTAAGGAGTTGTTGTTAACGAGCCCGAAATACAGATTTTGGAAGAAA c.240
C S P V T K E L L L T S P K Y R F W K K p.80
| 04 . . . . . . g.19280
CGAATT | ATATCTATTGAAATCGAGACTCCTACCCAGATATCTTTAGTGGATGAAGCATCA c.300
R I | I S I E I E T P T Q I S L V D E A S p.100
| 05 . . . . . . g.22556
GGAGAG | AAGGAAGAGATTGTTGTGACTCTCTTACCAGCTGGTCACTGTCCGGGATCAGTT c.360
G E | K E E I V V T L L P A G H C P G S V p.120
| 06 . . . . . . g.23589
AT | GTTTTTATTTCAGGGCAATAATGGAACTGTCCTGTACACAGGAGACTTCAGATTGGCG c.420
M | F L F Q G N N G T V L Y T G D F R L A p.140
. . . . | 07 . . g.24336
CAAGGAGAAGCTGCTAGAATGGAGCTTCTGCACTCCGGGGGCAG | AGTCAAAGACATCCAA c.480
Q G E A A R M E L L H S G G R | V K D I Q p.160
. . . . . | 08. g.24578
AGTGTATATTTGGATACTACGTTCTGTGATCCAAGATTTTACCAAATTCCAAGTCGG | GAG c.540
S V Y L D T T F C D P R F Y Q I P S R | E p.180
. . . . . . g.24638
GAGTGTTTAAGTGGAGTCTTAGAGCTGGTCCGAAGCTGGATCACTCGGAGCCCGTACCAT c.600
E C L S G V L E L V R S W I T R S P Y H p.200
. . . . . . g.24698
GTTGTGTGGCTGAACTGCAAAGCGGCTTATGGCTATGAATATCTGTTCACCAACCTTAGT c.660
V V W L N C K A A Y G Y E Y L F T N L S p.220
. | 09 . . . . g.26182
GAAGAATTAGGAGTCCAG | GTTCATGTGAATAAGCTAGACATGTTTAGGAACATGCCTGAG c.720
E E L G V Q | V H V N K L D M F R N M P E p.240
. . . . . . g.26242
ATCCTTCATCATCTCACAACAGACCGCAACACTCAGATCCATGCATGCCGGCATCCCAAG c.780
I L H H L T T D R N T Q I H A C R H P K p.260
| 10 . . . . . . g.31003
| GCAGAGGAATATTTTCAGTGGAGCAAATTACCCTGTGGAATTACTTCCAGAAATAGAATT c.840
| A E E Y F Q W S K L P C G I T S R N R I p.280
. . . . . . g.31063
CCACTCCACATAATCAGCATTAAGCCATCCACCATGTGGTTTGGAGAAAGGAGCAGAAAA c.900
P L H I I S I K P S T M W F G E R S R K p.300
. | 11. . . . . g.32241
ACAAATGTAATTGTGAG | GACTGGAGAGAGTTCATACAGAGCTTGTTTTTCTTTTCACTCC c.960
T N V I V R | T G E S S Y R A C F S F H S p.320
. | 12 . . . . . g.36074
TCCTACAGTGAG | ATTAAAGATTTCTTGAGCTACCTCTGTCCTGTGAACGCATATCCAAAT c.1020
S Y S E | I K D F L S Y L C P V N A Y P N p.340
. . . . | 13 . . g.39282
GTCATTCCAGTTGGCACAACTATGGATAAAGTTGTCGAAAT | CTTAAAGCCTTTATGCCGG c.1080
V I P V G T T M D K V V E I | L K P L C R p.360
. . . . . . g.39342
TCTTCCCAAAGTACGGAGCCAAAGTATAAACCACTGGGAAAACTGAAGAGAGCTAGAACA c.1140
S S Q S T E P K Y K P L G K L K R A R T p.380
. | 14 . . . . . g.49809
GTTCACCGAGACTCAG | AGGAGGAAGATGACTATCTCTTTGATGATCCTCTGCCAATACCT c.1200
V H R D S E | E E D D Y L F D D P L P I P p.400
. . . . . . g.49869
TTAAGGCACAAAGTTCCATACCCGGAAACTTTTCACCCTGAGGTATTTTCAATGACTGCA c.1260
L R H K V P Y P E T F H P E V F S M T A p.420
. . . . . . g.49929
GTATCAGAAAAGCAGCCTGAAAAACTGAGACAAACCCCAGGATGCTGCAGAGCAGAGTGT c.1320
V S E K Q P E K L R Q T P G C C R A E C p.440
. . . . . . g.49989
ATGCAGAGCTCTCGTTTCACAAACTTTGTAGATTGTGAAGAATCCAACAGTGAAAGTGAA c.1380
M Q S S R F T N F V D C E E S N S E S E p.460
. . . . . . g.50049
GAAGAAGTAGGAATCCCAGCTTCACTGCAAGGAGATCTGGGCTCTGTACTTCACCTGCAA c.1440
E E V G I P A S L Q G D L G S V L H L Q p.480
. . . . . . g.50109
AAGGCTGATGGGGATGTACCCCAGTGGGAAGTATTCTTTAAAAGAAATGATGAAATCACA c.1500
K A D G D V P Q W E V F F K R N D E I T p.500
. . . . . . g.50169
GATGAGAGTTTGGAAAACTTCCCTTCCTCCACAGTGGCAGGGGGATCTCAGTCACCAAAG c.1560
D E S L E N F P S S T V A G G S Q S P K p.520
. . . . . . g.50229
CTTTTCAGTGACTCTGATGGAGAATCAACTCACATCTCCTCCCAGAATTCTTCCCAGTCA c.1620
L F S D S D G E S T H I S S Q N S S Q S p.540
. . . . . . g.50289
ACACACATAACAGAACAAGGAAGTCAAGGCTGGGACAGCCAATCTGATACTGTTTTGTTA c.1680
T H I T E Q G S Q G W D S Q S D T V L L p.560
. . . . . . g.50349
TCTTCCCAAGAGAGAAACAGTGGGGATATTACTTCCTTGGACAAAGCTGACTACAGACCA c.1740
S S Q E R N S G D I T S L D K A D Y R P p.580
. . . . . . g.50409
ACAATCAAAGAGAATATTCCTGCCTCTCTCATGGAACAAAATGTAATTTGCCCAAAGGAT c.1800
T I K E N I P A S L M E Q N V I C P K D p.600
. . . . . . g.50469
ACTTACTCTGATTTGAAAAGCAGAGATAAAGATGTGACAATAGTTCCTAGTACTGGAGAA c.1860
T Y S D L K S R D K D V T I V P S T G E p.620
. . . . . . g.50529
CCAACTACTCTAAGCAGTGAGACACATATACCCGAGGAAAAAAGTTTGCTAAATCTTAGC c.1920
P T T L S S E T H I P E E K S L L N L S p.640
. . . . . . g.50589
ACAAATGCAGATTCCCAGAGCTCTTCTGATTTTGAAGTTCCCTCAACTCCAGAAGCTGAG c.1980
T N A D S Q S S S D F E V P S T P E A E p.660
. . . . . . g.50649
TTACCTAAACGAGAGCATTTACAATATTTATATGAGAAGCTGGCAACTGGTGAGAGTATA c.2040
L P K R E H L Q Y L Y E K L A T G E S I p.680
. . . g.50688
GCAGTCAAAAAAAGAAAATGCTCACTCTTAGATACCTAA c.2079
A V K K R K C S L L D T X p.692
. . . . . . g.50748
gaattcaaagcgtttcaacctagagcaaccactaaaaaacctgcacagagatgacagtca c.*60
. . . . . . g.50808
atattacaatagagaaaatacagtacttaaaaatgttcaaataacctggttgggtgtggt c.*120
. . . . . . g.50868
ggctcacacttgtaatcccagcactttgaggtgggcaatggcttgagcccaggagttcga c.*180
. . . . . . g.50928
caccagcctggccaacacagtgaaatgtgtctctacttacaaaaaaaaaaaaaaaaaaaa c.*240
. . . . . . g.50988
aagccaggcatggtggtgggctactctggaggcccttgaggatcacttgagcccaggaga c.*300
. . . . . . g.51048
ttgaggctgcagtgagccatgactgtgccactgcacctctagtctgggtgacagagcaag c.*360
. . . . . . g.51108
accctgtttaaaaaagaaaaaggccaggcacggtggctcatgcctgtaatcccagctacg c.*420
. . . . . . g.51168
caggaggccaaggcaggagaatcacttgaacctgggaggtggtggttgcagtgagctgag c.*480
. . . . . . g.51228
attgtgtcattgcactccagcctgggcaacaagagcaaaactctgtctcaaaaaaaaaaa c.*540
. . . . . . g.51288
aaaaaaaaaagaaaaaaaaatggtagaactaaacccatacgtatcaatgattacattaaa c.*600
. . . . . . g.51348
tgtaaatggtctaagtgcatcaatgacaagagacacggaaaaaaccaacataacccagtg c.*660
. . . . . . g.51408
atctgctgtctataaagaaagtcaattcaagtgattgataggttaaaaggatggaaaaac c.*720
. . . . . . g.51468
catgtaaacaattaaaaatggagtggttatatggacagtttcctaatgataaaaggtcta c.*780
. . . . . . g.51528
gttcaccaagaagacaaaataatcctaaacgtatatgcacctaacagctccaaaaattta c.*840
. . . . . . g.51588
tgaagctagaacagctgaaaagagacaaactaatgcacaattacagctagggattaattt c.*900
. . . . . . g.51648
aacatccctccttagtaacagaactagtatatacacattaatcagtaagaatatagaact c.*960
. . . . . . g.51708
gaaaatcataagccgactggattaaattgacatttatagaacacaccaccccaaactagc c.*1020
. . . . . . g.51768
agaatgtatctcctgaagtacacatggaacattcagcatgatcatatctttgctcataaa c.*1080
. . . . . . g.51828
cacacctgatttaaattgacaaacttggatctagtatgataaactgatggctatagacaa c.*1140
. . . . . . g.51888
aatcagcaccttatttatccccaaagatgttaagtcacttaaccttgatgtgaatacggt c.*1200
. . . . . . g.51948
ggccaaattagaagcggacaattagaatataaaagaaaatgctcaagaattaaatggtgg c.*1260
. . . . . . g.52008
ccaggcacagtaactcctgcctgcaatcccagtactttgggaggctcgcttgagctcagg c.*1320
. . . . . . g.52068
gttttgagtccagcctgggcaacacacagggagaccctgtctccacaaaatgttagccag c.*1380
. . . . . . g.52128
acatggtggtgtgcacctgtagtcctcgctacttggaaggcttaggtggcaggatggatt c.*1440
. . . . . . g.52188
gagcccaggaggttgaaactgcagtgagctgattgtgcccagcctgggcaacaaagcaag c.*1500
. . . g.52225
accccatctcaagaaaaataaattaaaaaaaactaaa c.*1537
(downstream sequence)
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