Canonical Allele Identifier: CA206620480
Gene: ERCC6 HGNC NCBI

Linked Data

dbSNP Id: rs36024883

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