Canonical Allele Identifier: CA920236154
Gene: CYP24A1 HGNC NCBI

Linked Data

dbSNP Id: rs1555889972

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.54164553del , CM000682.2:g.54164553del GRCh38
NC_000020.10:g.52781092del , CM000682.1:g.52781092del GRCh37
NC_000020.9:g.52214499del NCBI36
NG_008334.1:g.14425del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216862.8:c.743del MANE Select ENSP00000216862.3:p.Thr248SerfsTer5
ENST00000216862.7:c.743del ENSP00000216862.3:p.Thr248SerfsTer5
ENST00000395954.3:c.317del ENSP00000379284.3:p.Thr106SerfsTer5
ENST00000395955.7:c.743del ENSP00000379285.3:p.Thr248SerfsTer5
NM_000782.4:c.743del NP_000773.2:p.Thr248SerfsTer5
NM_001128915.1:c.743del NP_001122387.1:p.Thr248SerfsTer5
XM_005260304.3:c.743del XP_005260361.1:p.Thr248SerfsTer5
XM_005260304.5:c.743del XP_005260361.1:p.Thr248SerfsTer5
XM_017027691.2:c.743del XP_016883180.1:p.Thr248SerfsTer5
XM_017027692.2:c.743del XP_016883181.1:p.Thr248SerfsTer5
XM_017027693.2:c.743del XP_016883182.1:p.Thr248SerfsTer5
NM_000782.5:c.743del MANE Select NP_000773.2:p.Thr248SerfsTer5
NM_001128915.2:c.743del NP_001122387.1:p.Thr248SerfsTer5