Canonical Allele Identifier: CA2574544765

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460287del , CM000672.2:g.49460287del	GRCh38
NC_000010.10:g.50668333del , CM000672.1:g.50668333del	GRCh37
NC_000010.9:g.50338339del	NCBI36
NG_009442.1:g.83818del , LRG_465:g.83818del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.4062+89del MANE Select	ENSP00000348089.5:n.4062+89del
ENST00000679552.1:n.1222del
ENST00000679871.1:n.1208+89del
ENST00000679974.1:n.1111+89del
ENST00000681632.1:n.5465+89del
ENST00000681659.1:c.3903+89del	ENSP00000505631.1:n.3903+89del
ENST00000355832.9:c.4062+89del	ENSP00000348089.5:n.4062+89del
ENST00000465653.1:n.473del
ENST00000623073.3:c.*2358+89del	ENSP00000485650.1:n.*2358+89del
ENST00000623115.3:c.2172+89del	ENSP00000485321.1:n.2172+89del
ENST00000624341.3:c.1894+89del
NM_000124.3:c.4062+89del	NP_000115.1:n.4062+89del
XR_945953.1:n.243-11278del
NM_001346440.1:c.4062+89del	NP_001333369.1:n.4062+89del
NM_000124.4:c.4062+89del MANE Select	NP_000115.1:n.4062+89del
NM_001346440.2:c.4062+89del	NP_001333369.1:n.4062+89del