Canonical Allele Identifier: CA10586372
Gene: DCLRE1C HGNC NCBI

Linked Data

ClinVar Variation Id: 254216
ClinVar RCV Id: RCV000240842
dbSNP Id: rs886037924

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.14908818dup , CM000672.2:g.14908818dup GRCh38
NC_000010.10:g.14950817dup , CM000672.1:g.14950817dup GRCh37
NC_000010.9:g.14990823dup NCBI36
NG_007276.1:g.50278dup , LRG_54:g.50278dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378241.6:c.*1857dup ENSP00000367487.3:n.*1857dup
ENST00000456122.2:c.*1343-9506dup ENSP00000413180.3:n.*1343-9506dup
ENST00000489161.2:c.*1392dup ENSP00000513000.2:n.*1392dup
ENST00000492201.6:c.*663dup ENSP00000512999.1:n.*663dup
ENST00000697047.1:c.1669dup ENSP00000513066.1:p.Thr557AsnfsTer21
ENST00000697070.1:c.1669dup ENSP00000513085.1:p.Thr557AsnfsTer21
ENST00000697071.1:c.*1589dup ENSP00000513086.1:n.*1589dup
ENST00000697072.1:c.*681dup ENSP00000513087.1:n.*681dup
ENST00000697073.1:c.*1447dup ENSP00000513088.2:n.*1447dup
ENST00000697074.1:c.*1447dup ENSP00000513089.2:n.*1447dup
ENST00000697075.1:c.1669dup ENSP00000513090.1:p.Thr557AsnfsTer21
ENST00000697076.1:c.*681dup ENSP00000513091.1:n.*681dup
ENST00000697077.1:c.*1380dup ENSP00000513092.1:n.*1380dup
ENST00000697078.1:c.*1376dup ENSP00000513093.1:n.*1376dup
ENST00000697079.1:n.1373dup
ENST00000697080.1:c.*1533dup ENSP00000513094.1:n.*1533dup
ENST00000697081.1:c.*1427dup ENSP00000513095.1:n.*1427dup
ENST00000697082.1:c.*1698dup ENSP00000513096.1:n.*1698dup
ENST00000697083.1:c.*1474dup ENSP00000513097.1:n.*1474dup
ENST00000697084.1:c.1726dup ENSP00000513098.1:p.Thr576AsnfsTer21
ENST00000697085.1:c.*1436dup ENSP00000513099.1:n.*1436dup
ENST00000378278.7:c.1669dup MANE Select ENSP00000367527.2:p.Thr557AsnfsTer21
ENST00000357717.6:c.1324dup ENSP00000350349.2:p.Thr442AsnfsTer21
ENST00000378242.1:c.628dup ENSP00000367488.1:p.Thr210AsnfsTer21
ENST00000378246.6:c.1324dup ENSP00000367492.2:p.Thr442AsnfsTer21
ENST00000378249.5:c.1324dup ENSP00000367496.1:p.Thr442AsnfsTer21
ENST00000378254.5:c.1309dup ENSP00000367502.1:p.Thr437AsnfsTer21
ENST00000378255.5:c.1309dup ENSP00000367503.1:p.Thr437AsnfsTer21
ENST00000378258.5:c.1309dup ENSP00000367506.1:p.Thr437AsnfsTer21
ENST00000378278.6:c.1669dup ENSP00000367527.2:p.Thr557AsnfsTer21
ENST00000378289.8:c.1157-9506dup ENSP00000367538.4:n.1157-9506dup
ENST00000396817.6:c.1309dup ENSP00000380030.2:p.Thr437AsnfsTer21
ENST00000492201.5:n.884dup
NM_001033855.2:c.1669dup NP_001029027.1:p.Thr557AsnfsTer21
NM_001033857.2:c.1309dup NP_001029029.1:p.Thr437AsnfsTer21
NM_001033858.2:c.1309dup NP_001029030.1:p.Thr437AsnfsTer21
NM_001289076.1:c.1324dup NP_001276005.1:p.Thr442AsnfsTer21
NM_001289077.1:c.1309dup NP_001276006.1:p.Thr437AsnfsTer21
NM_001289078.1:c.1324dup NP_001276007.1:p.Thr442AsnfsTer21
NM_001289079.1:c.1309dup NP_001276008.1:p.Thr437AsnfsTer21
NM_022487.3:c.1324dup NP_071932.2:p.Thr442AsnfsTer21
NR_110297.1:n.2444dup
XM_006717491.2:c.1324dup XP_006717554.1:p.Thr442AsnfsTer21
XM_011519616.1:c.1324dup XP_011517918.1:p.Thr442AsnfsTer21
XM_011519617.1:c.1324dup XP_011517919.1:p.Thr442AsnfsTer21
XM_011519618.1:c.1324dup XP_011517920.1:p.Thr442AsnfsTer21
XM_011519619.1:c.1309dup XP_011517921.1:p.Thr437AsnfsTer21
NM_001350965.1:c.1669dup NP_001337894.1:p.Thr557AsnfsTer21
NM_001350966.1:c.1324dup NP_001337895.1:p.Thr442AsnfsTer21
NM_001350967.1:c.1309dup NP_001337896.1:p.Thr437AsnfsTer21
NR_146960.1:n.2036dup
NR_146961.1:n.2185dup
NR_146962.1:n.2156dup
XM_006717491.4:c.1324dup XP_006717554.1:p.Thr442AsnfsTer21
XM_017016557.1:c.1324dup XP_016872046.1:p.Thr442AsnfsTer21
XM_017016558.1:c.1309dup XP_016872047.1:p.Thr437AsnfsTer21
XM_024448134.1:c.1309dup XP_024303902.1:p.Thr437AsnfsTer21
XM_024448135.1:c.1324dup XP_024303903.1:p.Thr442AsnfsTer21
XR_001747185.2:n.1958dup
XR_001747187.1:n.1790dup
NM_001033855.3:c.1669dup MANE Select NP_001029027.1:p.Thr557AsnfsTer21
NM_001033857.3:c.1309dup NP_001029029.1:p.Thr437AsnfsTer21
NM_001033858.3:c.1309dup NP_001029030.1:p.Thr437AsnfsTer21
NM_001289076.2:c.1324dup NP_001276005.1:p.Thr442AsnfsTer21
NM_001289077.2:c.1309dup NP_001276006.1:p.Thr437AsnfsTer21
NM_001289078.2:c.1324dup NP_001276007.1:p.Thr442AsnfsTer21
NM_001289079.2:c.1309dup NP_001276008.1:p.Thr437AsnfsTer21
NM_001350965.2:c.1669dup NP_001337894.1:p.Thr557AsnfsTer21
NM_001350966.2:c.1324dup NP_001337895.1:p.Thr442AsnfsTer21
NM_001350967.2:c.1309dup NP_001337896.1:p.Thr437AsnfsTer21
NM_022487.4:c.1324dup NP_071932.2:p.Thr442AsnfsTer21
NR_110297.2:n.2108dup
NR_146961.2:n.1849dup