Canonical Allele Identifier: CA2787930257

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493313_49493314insACA , CM000672.2:g.49493313_49493314insACA	GRCh38
NC_000010.10:g.50701359_50701360insACA , CM000672.1:g.50701359_50701360insACA	GRCh37
NC_000010.9:g.50371365_50371366insACA	NCBI36
NG_009442.1:g.50788_50789insTGT , LRG_465:g.50788_50789insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1686-62_1686-61insTGT MANE Select	ENSP00000348089.5:n.1686-62_1686-61insTGT
ENST00000681632.1:n.1764-62_1764-61insTGT
ENST00000681659.1:c.1527-62_1527-61insTGT	ENSP00000505631.1:n.1527-62_1527-61insTGT
ENST00000355832.9:c.1686-62_1686-61insTGT	ENSP00000348089.5:n.1686-62_1686-61insTGT
ENST00000475116.1:n.275+7224_275+7225insTGT
ENST00000623073.3:c.87-62_87-61insTGT	ENSP00000485650.1:n.87-62_87-61insTGT
ENST00000623115.3:c.-70+7224_-70+7225insTGT	ENSP00000485321.1:n.-70+7224_-70+7225insTGT
ENST00000623318.1:c.87-62_87-61insTGT	ENSP00000485423.1:n.87-62_87-61insTGT
NM_000124.3:c.1686-62_1686-61insTGT	NP_000115.1:n.1686-62_1686-61insTGT
NM_001346440.1:c.1686-62_1686-61insTGT	NP_001333369.1:n.1686-62_1686-61insTGT
NM_000124.4:c.1686-62_1686-61insTGT MANE Select	NP_000115.1:n.1686-62_1686-61insTGT
NM_001346440.2:c.1686-62_1686-61insTGT	NP_001333369.1:n.1686-62_1686-61insTGT