Canonical Allele Identifier: CA3265657888
Community Standard Title: NM_005236.3(ERCC4):c.2244_2309del (p.Met748_Thr770delinsIle)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947840_13947905del , CM000678.2:g.13947840_13947905del GRCh38
NC_000016.9:g.14041697_14041762del , CM000678.1:g.14041697_14041762del GRCh37
NC_000016.8:g.13949198_13949263del NCBI36
NG_011442.1:g.32684_32749del , LRG_463:g.32684_32749del

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2244_2309del MANE Select NP_005227.1:p.Met748_Thr770delinsIle
ENST00000311895.8:c.2244_2309del MANE Select ENSP00000310520.7:p.Met748_Thr770delinsIle
NM_005236.2:c.2244_2309del , LRG_463t1:c.2244_2309del NP_005227.1:p.Met748_Thr770delinsIle
ENST00000311895.7:c.2244_2309del ENSP00000310520.7:p.Met748_Thr770delinsIle
ENST00000389138.7:n.1521_1586del
ENST00000462862.1:c.557_622del ENSP00000461322.1:n.557_622del
ENST00000682617.1:c.2382_2447del ENSP00000507912.1:p.Met794_Thr816delinsIle
ENST00000683962.1:c.*1938_*2003del ENSP00000506854.1:n.*1938_*2003del
XM_011522424.1:c.2382_2447del XP_011520726.1:p.Met794_Thr816delinsIle
XM_011522424.3:c.2382_2447del XP_011520726.1:p.Met794_Thr816delinsIle
XM_011522425.1:c.1701_1766del XP_011520727.1:p.Met567_Thr589delinsIle
XM_011522426.1:c.1455_1520del XP_011520728.1:p.Met485_Thr507delinsIle
XM_011522427.1:c.894_959del XP_011520729.1:p.Met298_Thr320delinsIle
XM_017023043.2:c.1455_1520del XP_016878532.1:p.Met485_Thr507delinsIle
XR_932805.1:n.2403_2468del