Canonical Allele Identifier: CA1908749256

Gene: ERCC6

Linked Data

• dbSNP Id: rs1850745913

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470112_49470113insAG , CM000672.2:g.49470112_49470113insAG	GRCh38
NC_000010.10:g.50678158_50678159insAG , CM000672.1:g.50678158_50678159insAG	GRCh37
NC_000010.9:g.50348164_50348165insAG	NCBI36
NG_009442.1:g.73989_73990insCT , LRG_465:g.73989_73990insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3778+69_3778+70insCT MANE Select	ENSP00000348089.5:n.3778+69_3778+70insCT
ENST00000679552.1:n.849+69_849+70insCT
ENST00000679871.1:n.924+69_924+70insCT
ENST00000679974.1:n.827+69_827+70insCT
ENST00000681632.1:n.5181+69_5181+70insCT
ENST00000681659.1:c.3619+69_3619+70insCT	ENSP00000505631.1:n.3619+69_3619+70insCT
ENST00000355832.9:c.3778+69_3778+70insCT	ENSP00000348089.5:n.3778+69_3778+70insCT
ENST00000465653.1:n.100+69_100+70insCT
ENST00000623073.3:c.*2074+69_*2074+70insCT	ENSP00000485650.1:n.*2074+69_*2074+70insCT
ENST00000623115.3:c.1888+69_1888+70insCT	ENSP00000485321.1:n.1888+69_1888+70insCT
ENST00000624341.3:c.1610+69_1610+70insCT
NM_000124.3:c.3778+69_3778+70insCT	NP_000115.1:n.3778+69_3778+70insCT
XR_945953.1:n.243-1453_243-1452insAG
NM_001346440.1:c.3778+69_3778+70insCT	NP_001333369.1:n.3778+69_3778+70insCT
NM_000124.4:c.3778+69_3778+70insCT MANE Select	NP_000115.1:n.3778+69_3778+70insCT
NM_001346440.2:c.3778+69_3778+70insCT	NP_001333369.1:n.3778+69_3778+70insCT