Canonical Allele Identifier: CA10628246
Gene: DCLRE1C HGNC NCBI

Linked Data

ClinVar Variation Id: 299291
ClinVar RCV Id: RCV000365908
dbSNP Id: rs41300680

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.14907693dup , CM000672.2:g.14907693dup GRCh38
NC_000010.10:g.14949692dup , CM000672.1:g.14949692dup GRCh37
NC_000010.9:g.14989698dup NCBI36
NG_007276.1:g.51407dup , LRG_54:g.51407dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378241.6:c.*2986dup ENSP00000367487.3:n.*2986dup
ENST00000456122.2:c.*1343-8377dup ENSP00000413180.3:n.*1343-8377dup
ENST00000697047.1:c.1782+1016dup ENSP00000513066.1:n.1782+1016dup
ENST00000697070.1:c.2029+769dup ENSP00000513085.1:n.2029+769dup
ENST00000697071.1:c.*1702+1016dup ENSP00000513086.1:n.*1702+1016dup
ENST00000697072.1:c.*794+1016dup ENSP00000513087.1:n.*794+1016dup
ENST00000697073.1:c.*1560+1016dup ENSP00000513088.2:n.*1560+1016dup
ENST00000697074.1:c.*1807+769dup ENSP00000513089.2:n.*1807+769dup
ENST00000378278.7:c.*719dup MANE Select ENSP00000367527.2:n.*719dup
ENST00000378289.8:c.1157-8377dup ENSP00000367538.4:n.1157-8377dup
NM_001033855.2:c.*719dup NP_001029027.1:n.*719dup
NM_001033857.2:c.*719dup NP_001029029.1:n.*719dup
NM_001033858.2:c.*719dup NP_001029030.1:n.*719dup
NM_001289076.1:c.*719dup NP_001276005.1:n.*719dup
NM_001289077.1:c.*719dup NP_001276006.1:n.*719dup
NM_001289078.1:c.*719dup NP_001276007.1:n.*719dup
NM_001289079.1:c.*719dup NP_001276008.1:n.*719dup
NM_022487.3:c.*719dup NP_071932.2:n.*719dup
NR_110297.1:n.3573dup
NM_001350965.1:c.1782+1016dup NP_001337894.1:n.1782+1016dup
NM_001350966.1:c.1437+1016dup NP_001337895.1:n.1437+1016dup
NM_001350967.1:c.1422+1016dup NP_001337896.1:n.1422+1016dup
NR_146960.1:n.2149+1016dup
NR_146961.1:n.3314dup
NR_146962.1:n.3285dup
XM_024448134.1:c.*719dup XP_024303902.1:n.*719dup
XM_024448135.1:c.1437+1016dup XP_024303903.1:n.1437+1016dup
NM_001033855.3:c.*719dup MANE Select NP_001029027.1:n.*719dup
NM_001033857.3:c.*719dup NP_001029029.1:n.*719dup
NM_001033858.3:c.*719dup NP_001029030.1:n.*719dup
NM_001289076.2:c.*719dup NP_001276005.1:n.*719dup
NM_001289077.2:c.*719dup NP_001276006.1:n.*719dup
NM_001289078.2:c.*719dup NP_001276007.1:n.*719dup
NM_001289079.2:c.*719dup NP_001276008.1:n.*719dup
NM_001350965.2:c.1782+1016dup NP_001337894.1:n.1782+1016dup
NM_001350966.2:c.1437+1016dup NP_001337895.1:n.1437+1016dup
NM_001350967.2:c.1422+1016dup NP_001337896.1:n.1422+1016dup
NM_022487.4:c.*719dup NP_071932.2:n.*719dup
NR_110297.2:n.3237dup
NR_146961.2:n.2978dup