Canonical Allele Identifier: CA2609134977

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49493005-G-GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493012_49493013dup , CM000672.2:g.49493012_49493013dup	GRCh38
NC_000010.10:g.50701058_50701059dup , CM000672.1:g.50701058_50701059dup	GRCh37
NC_000010.9:g.50371064_50371065dup	NCBI36
NG_009442.1:g.51095_51096dup , LRG_465:g.51095_51096dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1821+110_1821+111dup MANE Select	ENSP00000348089.5:n.1821+110_1821+111dup
ENST00000681632.1:n.1899+110_1899+111dup
ENST00000681659.1:c.1662+110_1662+111dup	ENSP00000505631.1:n.1662+110_1662+111dup
ENST00000355832.9:c.1821+110_1821+111dup	ENSP00000348089.5:n.1821+110_1821+111dup
ENST00000475116.1:n.275+7531_275+7532dup
ENST00000623073.3:c.222+110_222+111dup	ENSP00000485650.1:n.222+110_222+111dup
ENST00000623115.3:c.-70+7531_-70+7532dup	ENSP00000485321.1:n.-70+7531_-70+7532dup
ENST00000623318.1:c.222+110_222+111dup	ENSP00000485423.1:n.222+110_222+111dup
NM_000124.3:c.1821+110_1821+111dup	NP_000115.1:n.1821+110_1821+111dup
NM_001346440.1:c.1821+110_1821+111dup	NP_001333369.1:n.1821+110_1821+111dup
NM_000124.4:c.1821+110_1821+111dup MANE Select	NP_000115.1:n.1821+110_1821+111dup
NM_001346440.2:c.1821+110_1821+111dup	NP_001333369.1:n.1821+110_1821+111dup