Canonical Allele Identifier: CA593780534

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 550175
• ClinVar RCV Id: RCV000664845 ; RCV002530637
• dbSNP Id: rs1254008304
• gnomAD v2: 10-50732695-T-TGG
• gnomAD v3: 10-49524649-T-TGG
• gnomAD v4: 10-49524649-T-TGG
• MyVariant Identifiers: chr10:g.50732695_50732696insGG (hg19) ; chr10:g.49524650_49524651dup (hg38) ; chr10:g.49524649_49524650insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524651_49524652dup , CM000672.2:g.49524651_49524652dup	GRCh38
NC_000010.10:g.50732697_50732698dup , CM000672.1:g.50732697_50732698dup	GRCh37
NC_000010.9:g.50402703_50402704dup	NCBI36
NG_009442.1:g.19451_19452dup , LRG_465:g.19451_19452dup
NG_033155.1:g.4631_4632dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.779_780dup MANE Select	ENSP00000348089.5:p.Arg261ProfsTer?
ENST00000447839.7:c.779_780dup MANE Plus Clinical	ENSP00000387966.2:p.Arg261ProfsTer?
ENST00000679596.1:c.*408_*409dup	ENSP00000504862.1:n.*408_*409dup
ENST00000679811.1:n.862_863dup
ENST00000680107.1:c.652+3766_652+3767dup	ENSP00000505909.1:n.652+3766_652+3767dup
ENST00000680233.1:n.872_873dup
ENST00000681632.1:n.857_858dup
ENST00000681659.1:c.779_780dup	ENSP00000505631.1:p.Arg261ProfsTer?
ENST00000355832.9:c.779_780dup	ENSP00000348089.5:p.Arg261ProfsTer?
ENST00000447839.6:c.779_780dup	ENSP00000387966.2:p.Arg261ProfsTer?
ENST00000515869.1:c.779_780dup	ENSP00000423550.1:p.Arg261ProfsTer?
NM_000124.3:c.779_780dup	NP_000115.1:p.Arg261ProfsTer?
NM_001277058.1:c.779_780dup	NP_001263987.1:p.Arg261ProfsTer?
NM_001277059.1:c.779_780dup	NP_001263988.1:p.Arg261ProfsTer?
NM_001346440.1:c.779_780dup	NP_001333369.1:p.Arg261ProfsTer?
NM_000124.4:c.779_780dup MANE Select	NP_000115.1:p.Arg261ProfsTer?
NM_001277058.2:c.779_780dup MANE Plus Clinical	NP_001263987.1:p.Arg261ProfsTer?
NM_001277059.2:c.779_780dup	NP_001263988.1:p.Arg261ProfsTer?
NM_001346440.2:c.779_780dup	NP_001333369.1:p.Arg261ProfsTer?