Canonical Allele Identifier: CA1908764498

Gene: ERCC6

Linked Data

• dbSNP Id: rs1837271109

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524752del , CM000672.2:g.49524752del	GRCh38
NC_000010.10:g.50732798del , CM000672.1:g.50732798del	GRCh37
NC_000010.9:g.50402804del	NCBI36
NG_009442.1:g.19350del , LRG_465:g.19350del
NG_033155.1:g.4530del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.678del MANE Select	ENSP00000348089.5:p.Ser226ArgfsTer20
ENST00000447839.7:c.678del MANE Plus Clinical	ENSP00000387966.2:p.Ser226ArgfsTer20
ENST00000679596.1:c.*307del	ENSP00000504862.1:n.*307del
ENST00000679811.1:n.761del
ENST00000680107.1:c.652+3665del	ENSP00000505909.1:n.652+3665del
ENST00000680233.1:n.771del
ENST00000681632.1:n.756del
ENST00000681659.1:c.678del	ENSP00000505631.1:p.Ser226ArgfsTer20
ENST00000355832.9:c.678del	ENSP00000348089.5:p.Ser226ArgfsTer20
ENST00000447839.6:c.678del	ENSP00000387966.2:p.Ser226ArgfsTer20
ENST00000515869.1:c.678del	ENSP00000423550.1:p.Ser226ArgfsTer20
NM_000124.3:c.678del	NP_000115.1:p.Ser226ArgfsTer20
NM_001277058.1:c.678del	NP_001263987.1:p.Ser226ArgfsTer20
NM_001277059.1:c.678del	NP_001263988.1:p.Ser226ArgfsTer20
NM_001346440.1:c.678del	NP_001333369.1:p.Ser226ArgfsTer20
NM_000124.4:c.678del MANE Select	NP_000115.1:p.Ser226ArgfsTer20
NM_001277058.2:c.678del MANE Plus Clinical	NP_001263987.1:p.Ser226ArgfsTer20
NM_001277059.2:c.678del	NP_001263988.1:p.Ser226ArgfsTer20
NM_001346440.2:c.678del	NP_001333369.1:p.Ser226ArgfsTer20