Canonical Allele Identifier: CA277259
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 210956
ClinVar RCV Id: RCV000194098
dbSNP Id: rs797045562

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49524579_49524580insA , CM000672.2:g.49524579_49524580insA GRCh38
NC_000010.10:g.50732625_50732626insA , CM000672.1:g.50732625_50732626insA GRCh37
NC_000010.9:g.50402631_50402632insA NCBI36
NG_009442.1:g.19522_19523insT , LRG_465:g.19522_19523insT
NG_033155.1:g.4702_4703insT

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.850_851insT MANE Select ENSP00000348089.5:p.Glu284ValfsTer8
ENST00000447839.7:c.850_851insT MANE Plus Clinical ENSP00000387966.2:p.Glu284ValfsTer8
ENST00000679596.1:c.*479_*480insT ENSP00000504862.1:n.*479_*480insT
ENST00000679811.1:n.933_934insT
ENST00000680107.1:c.652+3837_652+3838insT ENSP00000505909.1:n.652+3837_652+3838insT...
ENST00000680233.1:n.943_944insT
ENST00000681632.1:n.928_929insT
ENST00000681659.1:c.850_851insT ENSP00000505631.1:p.Glu284ValfsTer8
ENST00000355832.9:c.850_851insT ENSP00000348089.5:p.Glu284ValfsTer8
ENST00000447839.6:c.850_851insT ENSP00000387966.2:p.Glu284ValfsTer8
ENST00000515869.1:c.850_851insT ENSP00000423550.1:p.Glu284ValfsTer8
NM_000124.3:c.850_851insT NP_000115.1:p.Glu284ValfsTer8
NM_001277058.1:c.850_851insT NP_001263987.1:p.Glu284ValfsTer8
NM_001277059.1:c.850_851insT NP_001263988.1:p.Glu284ValfsTer8
NM_001346440.1:c.850_851insT NP_001333369.1:p.Glu284ValfsTer8
NM_000124.4:c.850_851insT MANE Select NP_000115.1:p.Glu284ValfsTer8
NM_001277058.2:c.850_851insT MANE Plus Clinical NP_001263987.1:p.Glu284ValfsTer8
NM_001277059.2:c.850_851insT NP_001263988.1:p.Glu284ValfsTer8
NM_001346440.2:c.850_851insT NP_001333369.1:p.Glu284ValfsTer8