Canonical Allele Identifier: CA206620480

Gene: ERCC6

Linked Data

• dbSNP Id: rs36024883
• MyVariant Identifiers: chr10:g.50732731_50732732insA (hg19) ; chr10:g.49524685_49524686insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524689dup , CM000672.2:g.49524689dup	GRCh38
NC_000010.10:g.50732735dup , CM000672.1:g.50732735dup	GRCh37
NC_000010.9:g.50402741dup	NCBI36
NG_009442.1:g.19416dup , LRG_465:g.19416dup
NG_033155.1:g.4596dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.744dup MANE Select	ENSP00000348089.5:p.Gly249TrpfsTer18
ENST00000447839.7:c.744dup MANE Plus Clinical	ENSP00000387966.2:p.Gly249TrpfsTer18
ENST00000679596.1:c.*373dup	ENSP00000504862.1:n.*373dup
ENST00000679811.1:n.827dup
ENST00000680107.1:c.652+3731dup	ENSP00000505909.1:n.652+3731dup
ENST00000680233.1:n.837dup
ENST00000681632.1:n.822dup
ENST00000681659.1:c.744dup	ENSP00000505631.1:p.Gly249TrpfsTer18
ENST00000355832.9:c.744dup	ENSP00000348089.5:p.Gly249TrpfsTer18
ENST00000447839.6:c.744dup	ENSP00000387966.2:p.Gly249TrpfsTer18
ENST00000515869.1:c.744dup	ENSP00000423550.1:p.Gly249TrpfsTer18
NM_000124.3:c.744dup	NP_000115.1:p.Gly249TrpfsTer18
NM_001277058.1:c.744dup	NP_001263987.1:p.Gly249TrpfsTer18
NM_001277059.1:c.744dup	NP_001263988.1:p.Gly249TrpfsTer18
NM_001346440.1:c.744dup	NP_001333369.1:p.Gly249TrpfsTer18
NM_000124.4:c.744dup MANE Select	NP_000115.1:p.Gly249TrpfsTer18
NM_001277058.2:c.744dup MANE Plus Clinical	NP_001263987.1:p.Gly249TrpfsTer18
NM_001277059.2:c.744dup	NP_001263988.1:p.Gly249TrpfsTer18
NM_001346440.2:c.744dup	NP_001333369.1:p.Gly249TrpfsTer18