Canonical Allele Identifier: CA5495861

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2026690
• ClinVar RCV Id: RCV002871491
• dbSNP Id: rs750598605
• ExAC: 10:50701173 GTATAGGAACCGGTTTCA / G
• gnomAD v2: 10-50701173-GTATAGGAACCGGTTTCA-G
• gnomAD v3: 10-49493127-GTATAGGAACCGGTTTCA-G
• gnomAD v4: 10-49493127-GTATAGGAACCGGTTTCA-G
• MyVariant Identifiers: chr10:g.50701174_50701190del (hg19) ; chr10:g.49493128_49493144del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493129_49493145del , CM000672.2:g.49493129_49493145del	GRCh38
NC_000010.10:g.50701175_50701191del , CM000672.1:g.50701175_50701191del	GRCh37
NC_000010.9:g.50371181_50371197del	NCBI36
NG_009442.1:g.50958_50974del , LRG_465:g.50958_50974del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1794_1810del MANE Select	ENSP00000348089.5:p.Glu599ProfsTer?
ENST00000681632.1:n.1872_1888del
ENST00000681659.1:c.1635_1651del	ENSP00000505631.1:p.Glu546ProfsTer?
ENST00000355832.9:c.1794_1810del	ENSP00000348089.5:p.Glu599ProfsTer?
ENST00000475116.1:n.275+7394_275+7410del
ENST00000623073.3:c.195_211del	ENSP00000485650.1:p.Glu66ProfsTer10
ENST00000623115.3:c.-70+7394_-70+7410del	ENSP00000485321.1:n.-70+7394_-70+7410del
ENST00000623318.1:c.195_211del	ENSP00000485423.1:p.Glu66ProfsTer?
NM_000124.3:c.1794_1810del	NP_000115.1:p.Glu599ProfsTer?
NM_001346440.1:c.1794_1810del	NP_001333369.1:p.Glu599ProfsTer?
NM_000124.4:c.1794_1810del MANE Select	NP_000115.1:p.Glu599ProfsTer?
NM_001346440.2:c.1794_1810del	NP_001333369.1:p.Glu599ProfsTer?