Canonical Allele Identifier: CA2609135402

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49460359-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460361del , CM000672.2:g.49460361del	GRCh38
NC_000010.10:g.50668407del , CM000672.1:g.50668407del	GRCh37
NC_000010.9:g.50338413del	NCBI36
NG_009442.1:g.83742del , LRG_465:g.83742del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4062+13del MANE Select	ENSP00000348089.5:n.4062+13del
ENST00000679552.1:n.1146del
ENST00000679871.1:n.1208+13del
ENST00000679974.1:n.1111+13del
ENST00000681632.1:n.5465+13del
ENST00000681659.1:c.3903+13del	ENSP00000505631.1:n.3903+13del
ENST00000355832.9:c.4062+13del	ENSP00000348089.5:n.4062+13del
ENST00000465653.1:n.397del
ENST00000623073.3:c.*2358+13del	ENSP00000485650.1:n.*2358+13del
ENST00000623115.3:c.2172+13del	ENSP00000485321.1:n.2172+13del
ENST00000624341.3:c.1894+13del
NM_000124.3:c.4062+13del	NP_000115.1:n.4062+13del
XR_945953.1:n.243-11204del
NM_001346440.1:c.4062+13del	NP_001333369.1:n.4062+13del
NM_000124.4:c.4062+13del MANE Select	NP_000115.1:n.4062+13del
NM_001346440.2:c.4062+13del	NP_001333369.1:n.4062+13del