Canonical Allele Identifier: CA2999925094
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947575_13947576del , CM000678.2:g.13947575_13947576del GRCh38
NC_000016.9:g.14041432_14041433del , CM000678.1:g.14041432_14041433del GRCh37
NC_000016.8:g.13948933_13948934del NCBI36
NG_011442.1:g.32419_32420del , LRG_463:g.32419_32420del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2156-39_2156-38del ENSP00000507912.1:n.2156-39_2156-38del
ENST00000683962.1:c.*1712-39_*1712-38del ENSP00000506854.1:n.*1712-39_*1712-38del
ENST00000311895.8:c.2018-39_2018-38del MANE Select ENSP00000310520.7:n.2018-39_2018-38del
ENST00000311895.7:c.2018-39_2018-38del ENSP00000310520.7:n.2018-39_2018-38del
ENST00000389138.7:n.1295-39_1295-38del
ENST00000462862.1:c.331-39_331-38del ENSP00000461322.1:n.331-39_331-38del
NM_005236.2:c.2018-39_2018-38del , LRG_463t1:c.2018-39_2018-38del NP_005227.1:n.2018-39_2018-38del
XM_011522424.1:c.2156-39_2156-38del XP_011520726.1:n.2156-39_2156-38del
XM_011522425.1:c.1475-39_1475-38del XP_011520727.1:n.1475-39_1475-38del
XM_011522426.1:c.1229-39_1229-38del XP_011520728.1:n.1229-39_1229-38del
XM_011522427.1:c.668-39_668-38del XP_011520729.1:n.668-39_668-38del
XR_932805.1:n.2177-39_2177-38del
XM_011522424.3:c.2156-39_2156-38del XP_011520726.1:n.2156-39_2156-38del
XM_017023043.2:c.1229-39_1229-38del XP_016878532.1:n.1229-39_1229-38del
NM_005236.3:c.2018-39_2018-38del MANE Select NP_005227.1:n.2018-39_2018-38del