Canonical Allele Identifier: CA2787930297

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493349_49493351del , CM000672.2:g.49493349_49493351del	GRCh38
NC_000010.10:g.50701395_50701397del , CM000672.1:g.50701395_50701397del	GRCh37
NC_000010.9:g.50371401_50371403del	NCBI36
NG_009442.1:g.50751_50753del , LRG_465:g.50751_50753del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1686-99_1686-97del MANE Select	ENSP00000348089.5:n.1686-99_1686-97del
ENST00000681632.1:n.1764-99_1764-97del
ENST00000681659.1:c.1527-99_1527-97del	ENSP00000505631.1:n.1527-99_1527-97del
ENST00000355832.9:c.1686-99_1686-97del	ENSP00000348089.5:n.1686-99_1686-97del
ENST00000475116.1:n.275+7187_275+7189del
ENST00000623073.3:c.87-99_87-97del	ENSP00000485650.1:n.87-99_87-97del
ENST00000623115.3:c.-70+7187_-70+7189del	ENSP00000485321.1:n.-70+7187_-70+7189del
ENST00000623318.1:c.87-99_87-97del	ENSP00000485423.1:n.87-99_87-97del
NM_000124.3:c.1686-99_1686-97del	NP_000115.1:n.1686-99_1686-97del
NM_001346440.1:c.1686-99_1686-97del	NP_001333369.1:n.1686-99_1686-97del
NM_000124.4:c.1686-99_1686-97del MANE Select	NP_000115.1:n.1686-99_1686-97del
NM_001346440.2:c.1686-99_1686-97del	NP_001333369.1:n.1686-99_1686-97del