Canonical Allele Identifier: CA2999925082
Community Standard Title: NM_005236.3(ERCC4):c.2018-67_2018-66del
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947547_13947548del , CM000678.2:g.13947547_13947548del GRCh38
NC_000016.9:g.14041404_14041405del , CM000678.1:g.14041404_14041405del GRCh37
NC_000016.8:g.13948905_13948906del NCBI36
NG_011442.1:g.32391_32392del , LRG_463:g.32391_32392del

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2018-67_2018-66del MANE Select NP_005227.1:n.2018-67_2018-66del
ENST00000311895.8:c.2018-67_2018-66del MANE Select ENSP00000310520.7:n.2018-67_2018-66del
NM_005236.2:c.2018-67_2018-66del , LRG_463t1:c.2018-67_2018-66del NP_005227.1:n.2018-67_2018-66del
ENST00000311895.7:c.2018-67_2018-66del ENSP00000310520.7:n.2018-67_2018-66del
ENST00000389138.7:n.1295-67_1295-66del
ENST00000462862.1:c.331-67_331-66del ENSP00000461322.1:n.331-67_331-66del
ENST00000682617.1:c.2156-67_2156-66del ENSP00000507912.1:n.2156-67_2156-66del
ENST00000683962.1:c.*1712-67_*1712-66del ENSP00000506854.1:n.*1712-67_*1712-66del
XM_011522424.1:c.2156-67_2156-66del XP_011520726.1:n.2156-67_2156-66del
XM_011522424.3:c.2156-67_2156-66del XP_011520726.1:n.2156-67_2156-66del
XM_011522425.1:c.1475-67_1475-66del XP_011520727.1:n.1475-67_1475-66del
XM_011522426.1:c.1229-67_1229-66del XP_011520728.1:n.1229-67_1229-66del
XM_011522427.1:c.668-67_668-66del XP_011520729.1:n.668-67_668-66del
XM_017023043.2:c.1229-67_1229-66del XP_016878532.1:n.1229-67_1229-66del
XR_932805.1:n.2177-67_2177-66del