Canonical Allele Identifier: CA3265657884
Community Standard Title: NM_005236.3(ERCC4):c.2076_2186del (p.Glu694_Ser730del)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947672_13947782del , CM000678.2:g.13947672_13947782del GRCh38
NC_000016.9:g.14041529_14041639del , CM000678.1:g.14041529_14041639del GRCh37
NC_000016.8:g.13949030_13949140del NCBI36
NG_011442.1:g.32516_32626del , LRG_463:g.32516_32626del

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2076_2186del MANE Select NP_005227.1:p.Ser693_Ile729del
ENST00000311895.8:c.2076_2186del MANE Select ENSP00000310520.7:p.Ser693_Ile729del
NM_005236.2:c.2076_2186del , LRG_463t1:c.2076_2186del NP_005227.1:p.Ser693_Ile729del
ENST00000311895.7:c.2076_2186del ENSP00000310520.7:p.Ser693_Ile729del
ENST00000389138.7:n.1353_1463del
ENST00000462862.1:c.389_499del ENSP00000461322.1:n.389_499del
ENST00000682617.1:c.2214_2324del ENSP00000507912.1:p.Ser739_Ile775del
ENST00000683962.1:c.*1770_*1880del ENSP00000506854.1:n.*1770_*1880del
XM_011522424.1:c.2214_2324del XP_011520726.1:p.Ser739_Ile775del
XM_011522424.3:c.2214_2324del XP_011520726.1:p.Ser739_Ile775del
XM_011522425.1:c.1533_1643del XP_011520727.1:p.Ser512_Ile548del
XM_011522426.1:c.1287_1397del XP_011520728.1:p.Ser430_Ile466del
XM_011522427.1:c.726_836del XP_011520729.1:p.Ser243_Ile279del
XM_017023043.2:c.1287_1397del XP_016878532.1:p.Ser430_Ile466del
XR_932805.1:n.2235_2345del