Canonical Allele Identifier: CA2588690147

Gene: ERCC6

Linked Data

• gnomAD v3: 10-49492843-C-CTG
• gnomAD v4: 10-49492843-C-CTG

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49492843_49492844insTG , CM000672.2:g.49492843_49492844insTG	GRCh38
NC_000010.10:g.50700889_50700890insTG , CM000672.1:g.50700889_50700890insTG	GRCh37
NC_000010.9:g.50370895_50370896insTG	NCBI36
NG_009442.1:g.51258_51259insCA , LRG_465:g.51258_51259insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1821+273_1821+274insCA MANE Select	ENSP00000348089.5:n.1821+273_1821+274insCA
ENST00000681632.1:n.1899+273_1899+274insCA
ENST00000681659.1:c.1662+273_1662+274insCA	ENSP00000505631.1:n.1662+273_1662+274insCA
ENST00000355832.9:c.1821+273_1821+274insCA	ENSP00000348089.5:n.1821+273_1821+274insCA
ENST00000475116.1:n.275+7694_275+7695insCA
ENST00000623073.3:c.222+273_222+274insCA	ENSP00000485650.1:n.222+273_222+274insCA
ENST00000623115.3:c.-70+7694_-70+7695insCA	ENSP00000485321.1:n.-70+7694_-70+7695insCA
ENST00000623318.1:c.222+273_222+274insCA	ENSP00000485423.1:n.222+273_222+274insCA
NM_000124.3:c.1821+273_1821+274insCA	NP_000115.1:n.1821+273_1821+274insCA
NM_001346440.1:c.1821+273_1821+274insCA	NP_001333369.1:n.1821+273_1821+274insCA
NM_000124.4:c.1821+273_1821+274insCA MANE Select	NP_000115.1:n.1821+273_1821+274insCA
NM_001346440.2:c.1821+273_1821+274insCA	NP_001333369.1:n.1821+273_1821+274insCA