Canonical Allele Identifier: CA5495462
Gene: ERCC6 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 429988
ClinVar RCV Id: RCV000494454
dbSNP Id: rs747651923

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49471093_49471096del , CM000672.2:g.49471093_49471096del GRCh38
NC_000010.10:g.50679139_50679142del , CM000672.1:g.50679139_50679142del GRCh37
NC_000010.9:g.50349145_50349148del NCBI36
NG_009442.1:g.73007_73010del , LRG_465:g.73007_73010del

Transcript Alleles

HGVS Amino-acid change
NM_000124.3:c.2950_2953del VV NP_000115.1:p.Asn984GlufsTer3
XR_945953.1:n.243-472_243-469del
NM_001346440.1:c.2950_2953del VV NP_001333369.1:p.Asn984GlufsTer3
NM_000124.4:c.2950_2953del VV MANE Preferred NP_000115.1:p.Asn984GlufsTer3
ENST00000355832.9:c.2950_2953del ENSP00000348089.5:p.Asn984GlufsTer3
ENST00000623073.3:c.*1246_*1249del ENSP00000485650.1:p.=
ENST00000623115.3:c.1060_1063del ENSP00000485321.1:p.Asn354GlufsTer3
ENST00000624341.3:n.782_785del