Canonical Allele Identifier: CA2580081535

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1725886
• ClinVar RCV Id: RCV002306857

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493123del , CM000672.2:g.49493123del	GRCh38
NC_000010.10:g.50701169del , CM000672.1:g.50701169del	GRCh37
NC_000010.9:g.50371175del	NCBI36
NG_009442.1:g.50979del , LRG_465:g.50979del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1815del MANE Select	ENSP00000348089.5:p.His605GlnfsTer6
ENST00000681632.1:n.1893del
ENST00000681659.1:c.1656del	ENSP00000505631.1:p.His552GlnfsTer6
ENST00000355832.9:c.1815del	ENSP00000348089.5:p.His605GlnfsTer6
ENST00000475116.1:n.275+7415del
ENST00000623073.3:c.216del	ENSP00000485650.1:p.His72GlnfsTer?
ENST00000623115.3:c.-70+7415del	ENSP00000485321.1:n.-70+7415del
ENST00000623318.1:c.216del	ENSP00000485423.1:p.His72GlnfsTer6
NM_000124.3:c.1815del	NP_000115.1:p.His605GlnfsTer6
NM_001346440.1:c.1815del	NP_001333369.1:p.His605GlnfsTer6
NM_000124.4:c.1815del MANE Select	NP_000115.1:p.His605GlnfsTer6
NM_001346440.2:c.1815del	NP_001333369.1:p.His605GlnfsTer6