Canonical Allele Identifier: CA212815
Gene: DCLRE1C HGNC NCBI

Linked Data

ClinVar Variation Id: 4675
dbSNP Id: rs786200884

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.14909135_14909141del , CM000672.2:g.14909135_14909141del GRCh38
NC_000010.10:g.14951134_14951140del , CM000672.1:g.14951134_14951140del GRCh37
NC_000010.9:g.14991140_14991146del NCBI36
NG_007276.1:g.49959_49965del , LRG_54:g.49959_49965del

Transcript Alleles

HGVS Amino-acid change
ENST00000378241.6:c.*1538_*1544del ENSP00000367487.3:n.*1538_*1544del
ENST00000456122.2:c.*1343-9825_*1343-9819del ENSP00000413180.3:n.*1343-9825_*1343-9819...
ENST00000489161.2:c.*1073_*1079del ENSP00000513000.2:n.*1073_*1079del
ENST00000492201.6:c.*344_*350del ENSP00000512999.1:n.*344_*350del
ENST00000697047.1:c.1350_1356del ENSP00000513066.1:p.Asp451LysfsTer11
ENST00000697070.1:c.1350_1356del ENSP00000513085.1:p.Asp451LysfsTer11
ENST00000697071.1:c.*1270_*1276del ENSP00000513086.1:n.*1270_*1276del
ENST00000697072.1:c.*362_*368del ENSP00000513087.1:n.*362_*368del
ENST00000697073.1:c.*1128_*1134del ENSP00000513088.2:n.*1128_*1134del
ENST00000697074.1:c.*1128_*1134del ENSP00000513089.2:n.*1128_*1134del
ENST00000697075.1:c.1350_1356del ENSP00000513090.1:p.Asp451LysfsTer11
ENST00000697076.1:c.*362_*368del ENSP00000513091.1:n.*362_*368del
ENST00000697077.1:c.*1061_*1067del ENSP00000513092.1:n.*1061_*1067del
ENST00000697078.1:c.*1057_*1063del ENSP00000513093.1:n.*1057_*1063del
ENST00000697079.1:n.1054_1060del
ENST00000697080.1:c.*1214_*1220del ENSP00000513094.1:n.*1214_*1220del
ENST00000697081.1:c.*1108_*1114del ENSP00000513095.1:n.*1108_*1114del
ENST00000697082.1:c.*1379_*1385del ENSP00000513096.1:n.*1379_*1385del
ENST00000697083.1:c.*1155_*1161del ENSP00000513097.1:n.*1155_*1161del
ENST00000697084.1:c.1407_1413del ENSP00000513098.1:p.Asp470LysfsTer11
ENST00000697085.1:c.*1117_*1123del ENSP00000513099.1:n.*1117_*1123del
ENST00000697086.1:n.3926_3932del
ENST00000378278.7:c.1350_1356del MANE Select ENSP00000367527.2:p.Asp451LysfsTer11
ENST00000357717.6:c.1005_1011del ENSP00000350349.2:p.Asp336LysfsTer11
ENST00000378242.1:c.309_315del ENSP00000367488.1:p.Asp104LysfsTer11
ENST00000378246.6:c.1005_1011del ENSP00000367492.2:p.Asp336LysfsTer11
ENST00000378249.5:c.1005_1011del ENSP00000367496.1:p.Asp336LysfsTer11
ENST00000378254.5:c.990_996del ENSP00000367502.1:p.Asp331LysfsTer11
ENST00000378255.5:c.990_996del ENSP00000367503.1:p.Asp331LysfsTer11
ENST00000378258.5:c.990_996del ENSP00000367506.1:p.Asp331LysfsTer11
ENST00000378278.6:c.1350_1356del ENSP00000367527.2:p.Asp451LysfsTer11
ENST00000378289.8:c.1157-9825_1157-9819del ENSP00000367538.4:n.1157-9825_1157-9819de...
ENST00000396817.6:c.990_996del ENSP00000380030.2:p.Asp331LysfsTer11
ENST00000492201.5:n.565_571del
NM_001033855.2:c.1350_1356del NP_001029027.1:p.Asp451LysfsTer11
NM_001033857.2:c.990_996del NP_001029029.1:p.Asp331LysfsTer11
NM_001033858.2:c.990_996del NP_001029030.1:p.Asp331LysfsTer11
NM_001289076.1:c.1005_1011del NP_001276005.1:p.Asp336LysfsTer11
NM_001289077.1:c.990_996del NP_001276006.1:p.Asp331LysfsTer11
NM_001289078.1:c.1005_1011del NP_001276007.1:p.Asp336LysfsTer11
NM_001289079.1:c.990_996del NP_001276008.1:p.Asp331LysfsTer11
NM_022487.3:c.1005_1011del NP_071932.2:p.Asp336LysfsTer11
NR_110297.1:n.2125_2131del
XM_006717491.2:c.1005_1011del XP_006717554.1:p.Asp336LysfsTer11
XM_011519616.1:c.1005_1011del XP_011517918.1:p.Asp336LysfsTer11
XM_011519617.1:c.1005_1011del XP_011517919.1:p.Asp336LysfsTer11
XM_011519618.1:c.1005_1011del XP_011517920.1:p.Asp336LysfsTer11
XM_011519619.1:c.990_996del XP_011517921.1:p.Asp331LysfsTer11
NM_001350965.1:c.1350_1356del NP_001337894.1:p.Asp451LysfsTer11
NM_001350966.1:c.1005_1011del NP_001337895.1:p.Asp336LysfsTer11
NM_001350967.1:c.990_996del NP_001337896.1:p.Asp331LysfsTer11
NR_146960.1:n.1717_1723del
NR_146961.1:n.1866_1872del
NR_146962.1:n.1837_1843del
XM_006717491.4:c.1005_1011del XP_006717554.1:p.Asp336LysfsTer11
XM_017016557.1:c.1005_1011del XP_016872046.1:p.Asp336LysfsTer11
XM_017016558.1:c.990_996del XP_016872047.1:p.Asp331LysfsTer11
XM_024448134.1:c.990_996del XP_024303902.1:p.Asp331LysfsTer11
XM_024448135.1:c.1005_1011del XP_024303903.1:p.Asp336LysfsTer11
XR_001747185.2:n.1639_1645del
XR_001747187.1:n.1471_1477del
NM_001033855.3:c.1350_1356del MANE Select NP_001029027.1:p.Asp451LysfsTer11
NM_001033857.3:c.990_996del NP_001029029.1:p.Asp331LysfsTer11
NM_001033858.3:c.990_996del NP_001029030.1:p.Asp331LysfsTer11
NM_001289076.2:c.1005_1011del NP_001276005.1:p.Asp336LysfsTer11
NM_001289077.2:c.990_996del NP_001276006.1:p.Asp331LysfsTer11
NM_001289078.2:c.1005_1011del NP_001276007.1:p.Asp336LysfsTer11
NM_001289079.2:c.990_996del NP_001276008.1:p.Asp331LysfsTer11
NM_001350965.2:c.1350_1356del NP_001337894.1:p.Asp451LysfsTer11
NM_001350966.2:c.1005_1011del NP_001337895.1:p.Asp336LysfsTer11
NM_001350967.2:c.990_996del NP_001337896.1:p.Asp331LysfsTer11
NM_022487.4:c.1005_1011del NP_071932.2:p.Asp336LysfsTer11
NR_110297.2:n.1789_1795del
NR_146961.2:n.1530_1536del