Canonical Allele Identifier: CA2624005940
Gene: OSGEP HGNC NCBI

Linked Data

gnomAD v4: 14-20454805-AT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20454806del , CM000676.2:g.20454806del GRCh38
NC_000014.8:g.20922965del , CM000676.1:g.20922965del GRCh37
NC_000014.7:g.19992805del NCBI36
NG_008718.1:g.4676del

Transcript Alleles

HGVS Amino-acid Change
ENST00000206542.9:c.-123del MANE Select ENSP00000206542.4:n.-123del
ENST00000206542.8:c.-123del ENSP00000206542.4:n.-123del
ENST00000553640.3:c.-123del ENSP00000451580.1:n.-123del
ENST00000556252.1:n.248del
ENST00000556439.1:n.284del
NM_017807.3:c.-123del NP_060277.1:n.-123del
XM_011536930.1:c.-184del XP_011535232.1:n.-184del
XM_011536931.1:c.-419del XP_011535233.1:n.-419del
XM_011536932.1:c.-423del XP_011535234.1:n.-423del
NM_017807.4:c.-123del MANE Select NP_060277.1:n.-123del
Search 100 bp 5'
Search 100 bp 3'