Canonical Allele Identifier: CA2837994601
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948076_13948077del , CM000678.2:g.13948076_13948077del GRCh38
NC_000016.9:g.14041933_14041934del , CM000678.1:g.14041933_14041934del GRCh37
NC_000016.8:g.13949434_13949435del NCBI36
NG_011442.1:g.32920_32921del , LRG_463:g.32920_32921del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2618_2619del ENSP00000507912.1:p.Thr873SerfsTer9
ENST00000683962.1:c.*2174_*2175del ENSP00000506854.1:n.*2174_*2175del
ENST00000311895.8:c.2480_2481del MANE Select ENSP00000310520.7:p.Thr827SerfsTer9
ENST00000311895.7:c.2480_2481del ENSP00000310520.7:p.Thr827SerfsTer9
ENST00000389138.7:n.1757_1758del
NM_005236.2:c.2480_2481del , LRG_463t1:c.2480_2481del NP_005227.1:p.Thr827SerfsTer9
XM_011522424.1:c.2618_2619del XP_011520726.1:p.Thr873SerfsTer9
XM_011522425.1:c.1937_1938del XP_011520727.1:p.Thr646SerfsTer9
XM_011522426.1:c.1691_1692del XP_011520728.1:p.Thr564SerfsTer9
XM_011522427.1:c.1130_1131del XP_011520729.1:p.Thr377SerfsTer9
XR_932805.1:n.2639_2640del
XM_011522424.3:c.2618_2619del XP_011520726.1:p.Thr873SerfsTer9
XM_017023043.2:c.1691_1692del XP_016878532.1:p.Thr564SerfsTer9
NM_005236.3:c.2480_2481del MANE Select NP_005227.1:p.Thr827SerfsTer9