Canonical Allele Identifier: CA2209082556
Community Standard Title: NM_005236.3(ERCC4):c.2018-197_2018-196delinsTC
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947417_13947418delinsTC , CM000678.2:g.13947417_13947418delinsTC GRCh38
NC_000016.9:g.14041274_14041275delinsTC , CM000678.1:g.14041274_14041275delinsTC GRCh37
NC_000016.8:g.13948775_13948776delinsTC NCBI36
NG_011442.1:g.32261_32262delinsTC , LRG_463:g.32261_32262delinsTC

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2018-197_2018-196delinsTC MANE Select NP_005227.1:n.2018-197_2018-196delinsTC
ENST00000311895.8:c.2018-197_2018-196delinsTC MANE Select ENSP00000310520.7:n.2018-197_2018-196delinsTC
NM_005236.2:c.2018-197_2018-196delinsTC , LRG_463t1:c.2018-197_2018-196delinsTC NP_005227.1:n.2018-197_2018-196delinsTC
ENST00000311895.7:c.2018-197_2018-196delinsTC ENSP00000310520.7:n.2018-197_2018-196delinsTC
ENST00000389138.7:n.1295-197_1295-196delinsTC
ENST00000462862.1:c.331-197_331-196delinsTC ENSP00000461322.1:n.331-197_331-196delinsTC
ENST00000682617.1:c.2156-197_2156-196delinsTC ENSP00000507912.1:n.2156-197_2156-196delinsTC
ENST00000683962.1:c.*1712-197_*1712-196delinsTC ENSP00000506854.1:n.*1712-197_*1712-196delinsTC
XM_011522424.1:c.2156-197_2156-196delinsTC XP_011520726.1:n.2156-197_2156-196delinsTC
XM_011522424.3:c.2156-197_2156-196delinsTC XP_011520726.1:n.2156-197_2156-196delinsTC
XM_011522425.1:c.1475-197_1475-196delinsTC XP_011520727.1:n.1475-197_1475-196delinsTC
XM_011522426.1:c.1229-197_1229-196delinsTC XP_011520728.1:n.1229-197_1229-196delinsTC
XM_011522427.1:c.668-197_668-196delinsTC XP_011520729.1:n.668-197_668-196delinsTC
XM_017023043.2:c.1229-197_1229-196delinsTC XP_016878532.1:n.1229-197_1229-196delinsTC
XR_932805.1:n.2177-197_2177-196delinsTC