Canonical Allele Identifier: CA1908773165

Gene: ERCC6

Linked Data

• dbSNP Id: rs1851213188

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493537_49493538insTCAG , CM000672.2:g.49493537_49493538insTCAG	GRCh38
NC_000010.10:g.50701583_50701584insTCAG , CM000672.1:g.50701583_50701584insTCAG	GRCh37
NC_000010.9:g.50371589_50371590insTCAG	NCBI36
NG_009442.1:g.50564_50565insCTGA , LRG_465:g.50564_50565insCTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1686-286_1686-285insCTGA MANE Select	ENSP00000348089.5:n.1686-286_1686-285insCTGA
ENST00000681632.1:n.1764-286_1764-285insCTGA
ENST00000681659.1:c.1527-286_1527-285insCTGA	ENSP00000505631.1:n.1527-286_1527-285insCTGA
ENST00000355832.9:c.1686-286_1686-285insCTGA	ENSP00000348089.5:n.1686-286_1686-285insCTGA
ENST00000475116.1:n.275+7000_275+7001insCTGA
ENST00000623073.3:c.87-286_87-285insCTGA	ENSP00000485650.1:n.87-286_87-285insCTGA
ENST00000623115.3:c.-70+7000_-70+7001insCTGA	ENSP00000485321.1:n.-70+7000_-70+7001insCTGA
ENST00000623318.1:c.87-286_87-285insCTGA	ENSP00000485423.1:n.87-286_87-285insCTGA
NM_000124.3:c.1686-286_1686-285insCTGA	NP_000115.1:n.1686-286_1686-285insCTGA
NM_001346440.1:c.1686-286_1686-285insCTGA	NP_001333369.1:n.1686-286_1686-285insCTGA
NM_000124.4:c.1686-286_1686-285insCTGA MANE Select	NP_000115.1:n.1686-286_1686-285insCTGA
NM_001346440.2:c.1686-286_1686-285insCTGA	NP_001333369.1:n.1686-286_1686-285insCTGA