Canonical Allele Identifier: CA274697
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 190157
ClinVar RCV Id: RCV000170375
dbSNP Id: rs786205169
MyVariant Identifiers: chr10:g.50690903del (hg19) chr10:g.49482857del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49482857del , CM000672.2:g.49482857del GRCh38
NC_000010.10:g.50690903del , CM000672.1:g.50690903del GRCh37
NC_000010.9:g.50360909del NCBI36
NG_009442.1:g.61245del , LRG_465:g.61245del

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.1999del MANE Select ENSP00000348089.5:p.Thr667ProfsTer?
ENST00000681632.1:n.2077del
ENST00000681659.1:c.1840del ENSP00000505631.1:p.Thr614ProfsTer?
ENST00000355832.9:c.1999del ENSP00000348089.5:p.Thr667ProfsTer?
ENST00000623073.3:c.*391del ENSP00000485650.1:n.*391del
ENST00000623115.3:c.109del ENSP00000485321.1:p.Thr37ProfsTer?
NM_000124.3:c.1999del NP_000115.1:p.Thr667ProfsTer?
NM_001346440.1:c.1999del NP_001333369.1:p.Thr667ProfsTer?
NM_000124.4:c.1999del MANE Select NP_000115.1:p.Thr667ProfsTer?
NM_001346440.2:c.1999del NP_001333369.1:p.Thr667ProfsTer?
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