Canonical Allele Identifier: CA912969875

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50669423_50669424del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461377_49461378del , CM000672.2:g.49461377_49461378del	GRCh38
NC_000010.10:g.50669423_50669424del , CM000672.1:g.50669423_50669424del	GRCh37
NC_000010.9:g.50339429_50339430del	NCBI36
NG_009442.1:g.82724_82725del , LRG_465:g.82724_82725del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3957_3958del MANE Select	ENSP00000348089.5:p.Ile1320PhefsTer10
ENST00000679552.1:n.1028_1029del
ENST00000679871.1:n.1103_1104del
ENST00000679974.1:n.1006_1007del
ENST00000681632.1:n.5360_5361del
ENST00000681659.1:c.3798_3799del	ENSP00000505631.1:p.Ile1267PhefsTer10
ENST00000355832.9:c.3957_3958del	ENSP00000348089.5:p.Ile1320PhefsTer10
ENST00000465653.1:n.279_280del
ENST00000623073.3:c.*2253_*2254del	ENSP00000485650.1:n.*2253_*2254del
ENST00000623115.3:c.2067_2068del	ENSP00000485321.1:p.Ile690PhefsTer10
ENST00000624341.3:c.1789_1790del
NM_000124.3:c.3957_3958del	NP_000115.1:p.Ile1320PhefsTer10
XR_945953.1:n.243-10188_243-10187del
NM_001346440.1:c.3957_3958del	NP_001333369.1:p.Ile1320PhefsTer10
NM_000124.4:c.3957_3958del MANE Select	NP_000115.1:p.Ile1320PhefsTer10
NM_001346440.2:c.3957_3958del	NP_001333369.1:p.Ile1320PhefsTer10