Canonical Allele Identifier: CA274714
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 190172
ClinVar RCV Id: RCV000170391
dbSNP Id: rs786205175
MyVariant Identifiers: chr10:g.50668474del (hg19) chr10:g.49460428del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49460429del , CM000672.2:g.49460429del GRCh38
NC_000010.10:g.50668475del , CM000672.1:g.50668475del GRCh37
NC_000010.9:g.50338481del NCBI36
NG_009442.1:g.83674del , LRG_465:g.83674del

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.4007del MANE Select ENSP00000348089.5:p.Asn1336IlefsTer23
ENST00000679552.1:n.1078del
ENST00000679871.1:n.1153del
ENST00000679974.1:n.1056del
ENST00000681632.1:n.5410del
ENST00000681659.1:c.3848del ENSP00000505631.1:p.Asn1283IlefsTer23
ENST00000355832.9:c.4007del ENSP00000348089.5:p.Asn1336IlefsTer23
ENST00000465653.1:n.329del
ENST00000623073.3:c.*2303del ENSP00000485650.1:n.*2303del
ENST00000623115.3:c.2117del ENSP00000485321.1:p.Asn706IlefsTer23
ENST00000624341.3:c.1839del
NM_000124.3:c.4007del NP_000115.1:p.Asn1336IlefsTer23
XR_945953.1:n.243-11136del
NM_001346440.1:c.4007del NP_001333369.1:p.Asn1336IlefsTer23
NM_000124.4:c.4007del MANE Select NP_000115.1:p.Asn1336IlefsTer23
NM_001346440.2:c.4007del NP_001333369.1:p.Asn1336IlefsTer23
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