Canonical Allele Identifier: CA5495931

Gene: ERCC6

Linked Data

• dbSNP Id: rs778904927
• ExAC: 10:50708726 CA / C
• gnomAD v4: 10-49500680-CA-C
• MyVariant Identifiers: chr10:g.50708727del (hg19) ; chr10:g.49500681del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500681del , CM000672.2:g.49500681del	GRCh38
NC_000010.10:g.50708727del , CM000672.1:g.50708727del	GRCh37
NC_000010.9:g.50378733del	NCBI36
NG_009442.1:g.43421del , LRG_465:g.43421del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1542del MANE Select	ENSP00000348089.5:p.Val515LeufsTer28
ENST00000681632.1:n.1620del
ENST00000681659.1:c.1526+5203del	ENSP00000505631.1:n.1526+5203del
ENST00000355832.9:c.1542del	ENSP00000348089.5:p.Val515LeufsTer28
ENST00000475116.1:n.132del
ENST00000623073.3:c.-58del	ENSP00000485650.1:n.-58del
ENST00000623115.3:c.-213del	ENSP00000485321.1:n.-213del
ENST00000623318.1:c.-58del	ENSP00000485423.1:n.-58del
ENST00000623788.1:n.541del
NM_000124.3:c.1542del	NP_000115.1:p.Val515LeufsTer28
NM_001346440.1:c.1542del	NP_001333369.1:p.Val515LeufsTer28
NM_000124.4:c.1542del MANE Select	NP_000115.1:p.Val515LeufsTer28
NM_001346440.2:c.1542del	NP_001333369.1:p.Val515LeufsTer28