Canonical Allele Identifier: CA10634971

Gene: DCLRE1C

Linked Data

• ClinVar Variation Id: 299288
• ClinVar RCV Id: RCV000367314
• dbSNP Id: rs770468446
• gnomAD v2: 10-14949633-T-TTTTA
• gnomAD v3: 10-14907634-T-TTTTA
• gnomAD v4: 10-14907634-T-TTTTA
• MyVariant Identifiers: chr10:g.14949634_14949637dupTTTA (hg19) ; chr10:g.14949633_14949634insTTTA (hg19) ; chr10:g.14907635_14907638dupTTTA (hg38) ; chr10:g.14907634_14907635insTTTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.14907636_14907639dup , CM000672.2:g.14907636_14907639dup	GRCh38
NC_000010.10:g.14949635_14949638dup , CM000672.1:g.14949635_14949638dup	GRCh37
NC_000010.9:g.14989641_14989644dup	NCBI36
NG_007276.1:g.51458_51461dup , LRG_54:g.51458_51461dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378241.6:c.*3037_*3040dup	ENSP00000367487.3:n.*3037_*3040dup
ENST00000456122.2:c.*1343-8326_*1343-8323dup	ENSP00000413180.3:n.*1343-8326_*1343-8323dup
ENST00000697047.1:c.1782+1067_1782+1070dup	ENSP00000513066.1:n.1782+1067_1782+1070dup
ENST00000697070.1:c.2029+820_2029+823dup	ENSP00000513085.1:n.2029+820_2029+823dup
ENST00000697071.1:c.*1702+1067_*1702+1070dup	ENSP00000513086.1:n.*1702+1067_*1702+1070dup
ENST00000697072.1:c.*794+1067_*794+1070dup	ENSP00000513087.1:n.*794+1067_*794+1070dup
ENST00000697073.1:c.*1560+1067_*1560+1070dup	ENSP00000513088.2:n.*1560+1067_*1560+1070dup
ENST00000697074.1:c.*1807+820_*1807+823dup	ENSP00000513089.2:n.*1807+820_*1807+823dup
ENST00000378278.7:c.*770_*773dup MANE Select	ENSP00000367527.2:n.*770_*773dup
ENST00000378289.8:c.1157-8326_1157-8323dup	ENSP00000367538.4:n.1157-8326_1157-8323dup
NM_001033855.2:c.*770_*773dup	NP_001029027.1:n.*770_*773dup
NM_001033857.2:c.*770_*773dup	NP_001029029.1:n.*770_*773dup
NM_001033858.2:c.*770_*773dup	NP_001029030.1:n.*770_*773dup
NM_001289076.1:c.*770_*773dup	NP_001276005.1:n.*770_*773dup
NM_001289077.1:c.*770_*773dup	NP_001276006.1:n.*770_*773dup
NM_001289078.1:c.*770_*773dup	NP_001276007.1:n.*770_*773dup
NM_001289079.1:c.*770_*773dup	NP_001276008.1:n.*770_*773dup
NM_022487.3:c.*770_*773dup	NP_071932.2:n.*770_*773dup
NR_110297.1:n.3624_3627dup
NM_001350965.1:c.1782+1067_1782+1070dup	NP_001337894.1:n.1782+1067_1782+1070dup
NM_001350966.1:c.1437+1067_1437+1070dup	NP_001337895.1:n.1437+1067_1437+1070dup
NM_001350967.1:c.1422+1067_1422+1070dup	NP_001337896.1:n.1422+1067_1422+1070dup
NR_146960.1:n.2149+1067_2149+1070dup
NR_146961.1:n.3365_3368dup
NR_146962.1:n.3336_3339dup
XM_024448134.1:c.*770_*773dup	XP_024303902.1:n.*770_*773dup
XM_024448135.1:c.1437+1067_1437+1070dup	XP_024303903.1:n.1437+1067_1437+1070dup
NM_001033855.3:c.*770_*773dup MANE Select	NP_001029027.1:n.*770_*773dup
NM_001033857.3:c.*770_*773dup	NP_001029029.1:n.*770_*773dup
NM_001033858.3:c.*770_*773dup	NP_001029030.1:n.*770_*773dup
NM_001289076.2:c.*770_*773dup	NP_001276005.1:n.*770_*773dup
NM_001289077.2:c.*770_*773dup	NP_001276006.1:n.*770_*773dup
NM_001289078.2:c.*770_*773dup	NP_001276007.1:n.*770_*773dup
NM_001289079.2:c.*770_*773dup	NP_001276008.1:n.*770_*773dup
NM_001350965.2:c.1782+1067_1782+1070dup	NP_001337894.1:n.1782+1067_1782+1070dup
NM_001350966.2:c.1437+1067_1437+1070dup	NP_001337895.1:n.1437+1067_1437+1070dup
NM_001350967.2:c.1422+1067_1422+1070dup	NP_001337896.1:n.1422+1067_1422+1070dup
NM_022487.4:c.*770_*773dup	NP_071932.2:n.*770_*773dup
NR_110297.2:n.3288_3291dup
NR_146961.2:n.3029_3032dup