Canonical Allele Identifier: CA1908745516

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461487_49461490delinsTCCA , CM000672.2:g.49461487_49461490delinsTCCA	GRCh38
NC_000010.10:g.50669533_50669536delinsTCCA , CM000672.1:g.50669533_50669536delinsTCCA	GRCh37
NC_000010.9:g.50339539_50339542delinsTCCA	NCBI36
NG_009442.1:g.82612_82615delinsTGGA , LRG_465:g.82612_82615delinsTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3845_3848delinsTGGA MANE Select	ENSP00000348089.5:p.Val1282=
ENST00000679552.1:n.916_919delinsTGGA
ENST00000679871.1:n.991_994delinsTGGA
ENST00000679974.1:n.894_897delinsTGGA
ENST00000681632.1:n.5248_5251delinsTGGA
ENST00000681659.1:c.3686_3689delinsTGGA	ENSP00000505631.1:p.Val1229=
ENST00000355832.9:c.3845_3848delinsTGGA	ENSP00000348089.5:p.Val1282=
ENST00000465653.1:n.167_170delinsTGGA
ENST00000623073.3:c.*2141_*2144delinsTGGA	ENSP00000485650.1:n.*2141_*2144delinsTGGA
ENST00000623115.3:c.1955_1958delinsTGGA	ENSP00000485321.1:p.Val652=
ENST00000624341.3:c.1677_1680delinsTGGA
NM_000124.3:c.3845_3848delinsTGGA	NP_000115.1:p.Val1282=
XR_945953.1:n.243-10078_243-10075delinsTCCA
NM_001346440.1:c.3845_3848delinsTGGA	NP_001333369.1:p.Val1282=
NM_000124.4:c.3845_3848delinsTGGA MANE Select	NP_000115.1:p.Val1282=
NM_001346440.2:c.3845_3848delinsTGGA	NP_001333369.1:p.Val1282=