Canonical Allele Identifier: CA2609134950

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49492991-AACTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49492992_49492995del , CM000672.2:g.49492992_49492995del	GRCh38
NC_000010.10:g.50701038_50701041del , CM000672.1:g.50701038_50701041del	GRCh37
NC_000010.9:g.50371044_50371047del	NCBI36
NG_009442.1:g.51107_51110del , LRG_465:g.51107_51110del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1821+122_1821+125del MANE Select	ENSP00000348089.5:n.1821+122_1821+125del
ENST00000681632.1:n.1899+122_1899+125del
ENST00000681659.1:c.1662+122_1662+125del	ENSP00000505631.1:n.1662+122_1662+125del
ENST00000355832.9:c.1821+122_1821+125del	ENSP00000348089.5:n.1821+122_1821+125del
ENST00000475116.1:n.275+7543_275+7546del
ENST00000623073.3:c.222+122_222+125del	ENSP00000485650.1:n.222+122_222+125del
ENST00000623115.3:c.-70+7543_-70+7546del	ENSP00000485321.1:n.-70+7543_-70+7546del
ENST00000623318.1:c.222+122_222+125del	ENSP00000485423.1:n.222+122_222+125del
NM_000124.3:c.1821+122_1821+125del	NP_000115.1:n.1821+122_1821+125del
NM_001346440.1:c.1821+122_1821+125del	NP_001333369.1:n.1821+122_1821+125del
NM_000124.4:c.1821+122_1821+125del MANE Select	NP_000115.1:n.1821+122_1821+125del
NM_001346440.2:c.1821+122_1821+125del	NP_001333369.1:n.1821+122_1821+125del