Canonical Allele Identifier: CA2609135082

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49493046-C-CAG

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493050_49493051dup , CM000672.2:g.49493050_49493051dup	GRCh38
NC_000010.10:g.50701096_50701097dup , CM000672.1:g.50701096_50701097dup	GRCh37
NC_000010.9:g.50371102_50371103dup	NCBI36
NG_009442.1:g.51054_51055dup , LRG_465:g.51054_51055dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1821+69_1821+70dup MANE Select	ENSP00000348089.5:n.1821+69_1821+70dup
ENST00000681632.1:n.1899+69_1899+70dup
ENST00000681659.1:c.1662+69_1662+70dup	ENSP00000505631.1:n.1662+69_1662+70dup
ENST00000355832.9:c.1821+69_1821+70dup	ENSP00000348089.5:n.1821+69_1821+70dup
ENST00000475116.1:n.275+7490_275+7491dup
ENST00000623073.3:c.222+69_222+70dup	ENSP00000485650.1:n.222+69_222+70dup
ENST00000623115.3:c.-70+7490_-70+7491dup	ENSP00000485321.1:n.-70+7490_-70+7491dup
ENST00000623318.1:c.222+69_222+70dup	ENSP00000485423.1:n.222+69_222+70dup
NM_000124.3:c.1821+69_1821+70dup	NP_000115.1:n.1821+69_1821+70dup
NM_001346440.1:c.1821+69_1821+70dup	NP_001333369.1:n.1821+69_1821+70dup
NM_000124.4:c.1821+69_1821+70dup MANE Select	NP_000115.1:n.1821+69_1821+70dup
NM_001346440.2:c.1821+69_1821+70dup	NP_001333369.1:n.1821+69_1821+70dup