Canonical Allele Identifier: CA2209082589
Community Standard Title: NM_005236.3(ERCC4):c.2018-97_2018-94del
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947517_13947520del , CM000678.2:g.13947517_13947520del GRCh38
NC_000016.9:g.14041374_14041377del , CM000678.1:g.14041374_14041377del GRCh37
NC_000016.8:g.13948875_13948878del NCBI36
NG_011442.1:g.32361_32364del , LRG_463:g.32361_32364del

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2018-97_2018-94del MANE Select NP_005227.1:n.2018-97_2018-94del
ENST00000311895.8:c.2018-97_2018-94del MANE Select ENSP00000310520.7:n.2018-97_2018-94del
NM_005236.2:c.2018-97_2018-94del , LRG_463t1:c.2018-97_2018-94del NP_005227.1:n.2018-97_2018-94del
ENST00000311895.7:c.2018-97_2018-94del ENSP00000310520.7:n.2018-97_2018-94del
ENST00000389138.7:n.1295-97_1295-94del
ENST00000462862.1:c.331-97_331-94del ENSP00000461322.1:n.331-97_331-94del
ENST00000682617.1:c.2156-97_2156-94del ENSP00000507912.1:n.2156-97_2156-94del
ENST00000683962.1:c.*1712-97_*1712-94del ENSP00000506854.1:n.*1712-97_*1712-94del
XM_011522424.1:c.2156-97_2156-94del XP_011520726.1:n.2156-97_2156-94del
XM_011522424.3:c.2156-97_2156-94del XP_011520726.1:n.2156-97_2156-94del
XM_011522425.1:c.1475-97_1475-94del XP_011520727.1:n.1475-97_1475-94del
XM_011522426.1:c.1229-97_1229-94del XP_011520728.1:n.1229-97_1229-94del
XM_011522427.1:c.668-97_668-94del XP_011520729.1:n.668-97_668-94del
XM_017023043.2:c.1229-97_1229-94del XP_016878532.1:n.1229-97_1229-94del
XR_932805.1:n.2177-97_2177-94del