Canonical Allele Identifier: CA2787930319

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493391_49493392insA , CM000672.2:g.49493391_49493392insA	GRCh38
NC_000010.10:g.50701437_50701438insA , CM000672.1:g.50701437_50701438insA	GRCh37
NC_000010.9:g.50371443_50371444insA	NCBI36
NG_009442.1:g.50710_50711insT , LRG_465:g.50710_50711insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1686-140_1686-139insT MANE Select	ENSP00000348089.5:n.1686-140_1686-139insT
ENST00000681632.1:n.1764-140_1764-139insT
ENST00000681659.1:c.1527-140_1527-139insT	ENSP00000505631.1:n.1527-140_1527-139insT
ENST00000355832.9:c.1686-140_1686-139insT	ENSP00000348089.5:n.1686-140_1686-139insT
ENST00000475116.1:n.275+7146_275+7147insT
ENST00000623073.3:c.87-140_87-139insT	ENSP00000485650.1:n.87-140_87-139insT
ENST00000623115.3:c.-70+7146_-70+7147insT	ENSP00000485321.1:n.-70+7146_-70+7147insT
ENST00000623318.1:c.87-140_87-139insT	ENSP00000485423.1:n.87-140_87-139insT
NM_000124.3:c.1686-140_1686-139insT	NP_000115.1:n.1686-140_1686-139insT
NM_001346440.1:c.1686-140_1686-139insT	NP_001333369.1:n.1686-140_1686-139insT
NM_000124.4:c.1686-140_1686-139insT MANE Select	NP_000115.1:n.1686-140_1686-139insT
NM_001346440.2:c.1686-140_1686-139insT	NP_001333369.1:n.1686-140_1686-139insT