Canonical Allele Identifier: CA2787930321

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493408_49493409del , CM000672.2:g.49493408_49493409del	GRCh38
NC_000010.10:g.50701454_50701455del , CM000672.1:g.50701454_50701455del	GRCh37
NC_000010.9:g.50371460_50371461del	NCBI36
NG_009442.1:g.50693_50694del , LRG_465:g.50693_50694del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1686-157_1686-156del MANE Select	ENSP00000348089.5:n.1686-157_1686-156del
ENST00000681632.1:n.1764-157_1764-156del
ENST00000681659.1:c.1527-157_1527-156del	ENSP00000505631.1:n.1527-157_1527-156del
ENST00000355832.9:c.1686-157_1686-156del	ENSP00000348089.5:n.1686-157_1686-156del
ENST00000475116.1:n.275+7129_275+7130del
ENST00000623073.3:c.87-157_87-156del	ENSP00000485650.1:n.87-157_87-156del
ENST00000623115.3:c.-70+7129_-70+7130del	ENSP00000485321.1:n.-70+7129_-70+7130del
ENST00000623318.1:c.87-157_87-156del	ENSP00000485423.1:n.87-157_87-156del
NM_000124.3:c.1686-157_1686-156del	NP_000115.1:n.1686-157_1686-156del
NM_001346440.1:c.1686-157_1686-156del	NP_001333369.1:n.1686-157_1686-156del
NM_000124.4:c.1686-157_1686-156del MANE Select	NP_000115.1:n.1686-157_1686-156del
NM_001346440.2:c.1686-157_1686-156del	NP_001333369.1:n.1686-157_1686-156del