Canonical Allele Identifier: CA2580081549

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1725297
• ClinVar RCV Id: RCV002308356

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482750del , CM000672.2:g.49482750del	GRCh38
NC_000010.10:g.50690796del , CM000672.1:g.50690796del	GRCh37
NC_000010.9:g.50360802del	NCBI36
NG_009442.1:g.61352del , LRG_465:g.61352del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2106del MANE Select	ENSP00000348089.5:p.Phe703LeufsTer?
ENST00000681632.1:n.2184del
ENST00000681659.1:c.1947del	ENSP00000505631.1:p.Phe650LeufsTer?
ENST00000355832.9:c.2106del	ENSP00000348089.5:p.Phe703LeufsTer?
ENST00000623073.3:c.*498del	ENSP00000485650.1:n.*498del
ENST00000623115.3:c.216del	ENSP00000485321.1:p.Phe73LeufsTer?
NM_000124.3:c.2106del	NP_000115.1:p.Phe703LeufsTer?
NM_001346440.1:c.2106del	NP_001333369.1:p.Phe703LeufsTer?
NM_000124.4:c.2106del MANE Select	NP_000115.1:p.Phe703LeufsTer?
NM_001346440.2:c.2106del	NP_001333369.1:p.Phe703LeufsTer?