Canonical Allele Identifier: CA2787930265

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493323_49493329del , CM000672.2:g.49493323_49493329del	GRCh38
NC_000010.10:g.50701369_50701375del , CM000672.1:g.50701369_50701375del	GRCh37
NC_000010.9:g.50371375_50371381del	NCBI36
NG_009442.1:g.50773_50779del , LRG_465:g.50773_50779del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1686-77_1686-71del MANE Select	ENSP00000348089.5:n.1686-77_1686-71del
ENST00000681632.1:n.1764-77_1764-71del
ENST00000681659.1:c.1527-77_1527-71del	ENSP00000505631.1:n.1527-77_1527-71del
ENST00000355832.9:c.1686-77_1686-71del	ENSP00000348089.5:n.1686-77_1686-71del
ENST00000475116.1:n.275+7209_275+7215del
ENST00000623073.3:c.87-77_87-71del	ENSP00000485650.1:n.87-77_87-71del
ENST00000623115.3:c.-70+7209_-70+7215del	ENSP00000485321.1:n.-70+7209_-70+7215del
ENST00000623318.1:c.87-77_87-71del	ENSP00000485423.1:n.87-77_87-71del
NM_000124.3:c.1686-77_1686-71del	NP_000115.1:n.1686-77_1686-71del
NM_001346440.1:c.1686-77_1686-71del	NP_001333369.1:n.1686-77_1686-71del
NM_000124.4:c.1686-77_1686-71del MANE Select	NP_000115.1:n.1686-77_1686-71del
NM_001346440.2:c.1686-77_1686-71del	NP_001333369.1:n.1686-77_1686-71del