Canonical Allele Identifier: CA2575929541
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947599_13947602del , CM000678.2:g.13947599_13947602del GRCh38
NC_000016.9:g.14041456_14041459del , CM000678.1:g.14041456_14041459del GRCh37
NC_000016.8:g.13948957_13948960del NCBI36
NG_011442.1:g.32443_32446del , LRG_463:g.32443_32446del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2156-15_2156-12del ENSP00000507912.1:n.2156-15_2156-12del
ENST00000683962.1:c.*1712-15_*1712-12del ENSP00000506854.1:n.*1712-15_*1712-12del
ENST00000311895.8:c.2018-15_2018-12del MANE Select ENSP00000310520.7:n.2018-15_2018-12del
ENST00000311895.7:c.2018-15_2018-12del ENSP00000310520.7:n.2018-15_2018-12del
ENST00000389138.7:n.1295-15_1295-12del
ENST00000462862.1:c.331-15_331-12del ENSP00000461322.1:n.331-15_331-12del
NM_005236.2:c.2018-15_2018-12del , LRG_463t1:c.2018-15_2018-12del NP_005227.1:n.2018-15_2018-12del
XM_011522424.1:c.2156-15_2156-12del XP_011520726.1:n.2156-15_2156-12del
XM_011522425.1:c.1475-15_1475-12del XP_011520727.1:n.1475-15_1475-12del
XM_011522426.1:c.1229-15_1229-12del XP_011520728.1:n.1229-15_1229-12del
XM_011522427.1:c.668-15_668-12del XP_011520729.1:n.668-15_668-12del
XR_932805.1:n.2177-15_2177-12del
XM_011522424.3:c.2156-15_2156-12del XP_011520726.1:n.2156-15_2156-12del
XM_017023043.2:c.1229-15_1229-12del XP_016878532.1:n.1229-15_1229-12del
NM_005236.3:c.2018-15_2018-12del MANE Select NP_005227.1:n.2018-15_2018-12del