Canonical Allele Identifier: CA2740092985

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49476276_49476277del , CM000672.2:g.49476276_49476277del	GRCh38
NC_000010.10:g.50684322_50684323del , CM000672.1:g.50684322_50684323del	GRCh37
NC_000010.9:g.50354328_50354329del	NCBI36
NG_009442.1:g.67826_67827del , LRG_465:g.67826_67827del

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.2321_2322del MANE Select	NP_000115.1:p.Lys774SerfsTer7
ENST00000355832.10:c.2321_2322del MANE Select	ENSP00000348089.5:p.Lys774SerfsTer7
NM_000124.3:c.2321_2322del	NP_000115.1:p.Lys774SerfsTer7
NM_001346440.1:c.2321_2322del	NP_001333369.1:p.Lys774SerfsTer7
NM_001346440.2:c.2321_2322del	NP_001333369.1:p.Lys774SerfsTer7
ENST00000355832.9:c.2321_2322del	ENSP00000348089.5:p.Lys774SerfsTer7
ENST00000623073.3:c.*679-2034_*679-2033del	ENSP00000485650.1:n.*679-2034_*679-2033del
ENST00000623115.3:c.431_432del	ENSP00000485321.1:p.Lys144SerfsTer7
ENST00000681632.1:n.2399_2400del
ENST00000681659.1:c.2162_2163del	ENSP00000505631.1:p.Lys721SerfsTer7