Canonical Allele Identifier: CA658822986

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 557934
• ClinVar RCV Id: RCV002531345
• dbSNP Id: rs1554874073
• MyVariant Identifiers: chr10:g.49461378del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461382del , CM000672.2:g.49461382del	GRCh38
NC_000010.10:g.50669428del , CM000672.1:g.50669428del	GRCh37
NC_000010.9:g.50339434del	NCBI36
NG_009442.1:g.82724del , LRG_465:g.82724del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3957del MANE Select	ENSP00000348089.5:p.Ile1320PhefsTer?
ENST00000679552.1:n.1028del
ENST00000679871.1:n.1103del
ENST00000679974.1:n.1006del
ENST00000681632.1:n.5360del
ENST00000681659.1:c.3798del	ENSP00000505631.1:p.Ile1267PhefsTer?
ENST00000355832.9:c.3957del	ENSP00000348089.5:p.Ile1320PhefsTer?
ENST00000465653.1:n.279del
ENST00000623073.3:c.*2253del	ENSP00000485650.1:n.*2253del
ENST00000623115.3:c.2067del	ENSP00000485321.1:p.Ile690PhefsTer?
ENST00000624341.3:c.1789del
NM_000124.3:c.3957del	NP_000115.1:p.Ile1320PhefsTer?
XR_945953.1:n.243-10183del
NM_001346440.1:c.3957del	NP_001333369.1:p.Ile1320PhefsTer?
NM_000124.4:c.3957del MANE Select	NP_000115.1:p.Ile1320PhefsTer?
NM_001346440.2:c.3957del	NP_001333369.1:p.Ile1320PhefsTer?