Canonical Allele Identifier: CA1908749202
Gene: ERCC6 HGNC NCBI

Linked Data

dbSNP Id: rs1850743666

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49469999dup , CM000672.2:g.49469999dup GRCh38
NC_000010.10:g.50678045dup , CM000672.1:g.50678045dup GRCh37
NC_000010.9:g.50348051dup NCBI36
NG_009442.1:g.74104dup , LRG_465:g.74104dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.3778+184dup MANE Select ENSP00000348089.5:n.3778+184dup
ENST00000679552.1:n.849+184dup
ENST00000679871.1:n.924+184dup
ENST00000679974.1:n.827+184dup
ENST00000681632.1:n.5181+184dup
ENST00000681659.1:c.3619+184dup ENSP00000505631.1:n.3619+184dup
ENST00000355832.9:c.3778+184dup ENSP00000348089.5:n.3778+184dup
ENST00000465653.1:n.100+184dup
ENST00000623073.3:c.*2074+184dup ENSP00000485650.1:n.*2074+184dup
ENST00000623115.3:c.1888+184dup ENSP00000485321.1:n.1888+184dup
ENST00000624341.3:c.1610+184dup
NM_000124.3:c.3778+184dup NP_000115.1:n.3778+184dup
XR_945953.1:n.243-1566dup
NM_001346440.1:c.3778+184dup NP_001333369.1:n.3778+184dup
NM_000124.4:c.3778+184dup MANE Select NP_000115.1:n.3778+184dup
NM_001346440.2:c.3778+184dup NP_001333369.1:n.3778+184dup