Canonical Allele Identifier: CA2609135403

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49460361-T-TAGGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460362_49460363insGGTAA , CM000672.2:g.49460362_49460363insGGTAA	GRCh38
NC_000010.10:g.50668408_50668409insGGTAA , CM000672.1:g.50668408_50668409insGGTAA	GRCh37
NC_000010.9:g.50338414_50338415insGGTAA	NCBI36
NG_009442.1:g.83740_83741insTACCT , LRG_465:g.83740_83741insTACCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4062+11_4062+12insTACCT MANE Select	ENSP00000348089.5:n.4062+11_4062+12insTAC...
ENST00000679552.1:n.1144_1145insTACCT
ENST00000679871.1:n.1208+11_1208+12insTACCT
ENST00000679974.1:n.1111+11_1111+12insTACCT
ENST00000681632.1:n.5465+11_5465+12insTACCT
ENST00000681659.1:c.3903+11_3903+12insTACCT	ENSP00000505631.1:n.3903+11_3903+12insTAC...
ENST00000355832.9:c.4062+11_4062+12insTACCT	ENSP00000348089.5:n.4062+11_4062+12insTAC...
ENST00000465653.1:n.395_396insTACCT
ENST00000623073.3:c.*2358+11_*2358+12insTACCT	ENSP00000485650.1:n.*2358+11_*2358+12insT...
ENST00000623115.3:c.2172+11_2172+12insTACCT	ENSP00000485321.1:n.2172+11_2172+12insTAC...
ENST00000624341.3:c.1894+11_1894+12insTACCT
NM_000124.3:c.4062+11_4062+12insTACCT	NP_000115.1:n.4062+11_4062+12insTACCT
XR_945953.1:n.243-11203_243-11202insGGTAA
NM_001346440.1:c.4062+11_4062+12insTACCT	NP_001333369.1:n.4062+11_4062+12insTACCT
NM_000124.4:c.4062+11_4062+12insTACCT MANE Select	NP_000115.1:n.4062+11_4062+12insTACCT
NM_001346440.2:c.4062+11_4062+12insTACCT	NP_001333369.1:n.4062+11_4062+12insTACCT