Canonical Allele Identifier: CA2787930241

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493295_49493298del , CM000672.2:g.49493295_49493298del	GRCh38
NC_000010.10:g.50701341_50701344del , CM000672.1:g.50701341_50701344del	GRCh37
NC_000010.9:g.50371347_50371350del	NCBI36
NG_009442.1:g.50805_50808del , LRG_465:g.50805_50808del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1686-45_1686-42del MANE Select	ENSP00000348089.5:n.1686-45_1686-42del
ENST00000681632.1:n.1764-45_1764-42del
ENST00000681659.1:c.1527-45_1527-42del	ENSP00000505631.1:n.1527-45_1527-42del
ENST00000355832.9:c.1686-45_1686-42del	ENSP00000348089.5:n.1686-45_1686-42del
ENST00000475116.1:n.275+7241_275+7244del
ENST00000623073.3:c.87-45_87-42del	ENSP00000485650.1:n.87-45_87-42del
ENST00000623115.3:c.-70+7241_-70+7244del	ENSP00000485321.1:n.-70+7241_-70+7244del
ENST00000623318.1:c.87-45_87-42del	ENSP00000485423.1:n.87-45_87-42del
NM_000124.3:c.1686-45_1686-42del	NP_000115.1:n.1686-45_1686-42del
NM_001346440.1:c.1686-45_1686-42del	NP_001333369.1:n.1686-45_1686-42del
NM_000124.4:c.1686-45_1686-42del MANE Select	NP_000115.1:n.1686-45_1686-42del
NM_001346440.2:c.1686-45_1686-42del	NP_001333369.1:n.1686-45_1686-42del