Canonical Allele Identifier: CA920236153

Gene: CYP24A1

Linked Data

• dbSNP Id: rs1555889971

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54164552_54164553delinsT , CM000682.2:g.54164552_54164553delinsT	GRCh38
NC_000020.10:g.52781091_52781092delinsT , CM000682.1:g.52781091_52781092delinsT	GRCh37
NC_000020.9:g.52214498_52214499delinsT	NCBI36
NG_008334.1:g.14425_14426delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216862.8:c.743_744delinsA MANE Select	ENSP00000216862.3:p.Thr248AsnfsTer5
ENST00000216862.7:c.743_744delinsA	ENSP00000216862.3:p.Thr248AsnfsTer5
ENST00000395954.3:c.317_318delinsA	ENSP00000379284.3:p.Thr106AsnfsTer5
ENST00000395955.7:c.743_744delinsA	ENSP00000379285.3:p.Thr248AsnfsTer5
NM_000782.4:c.743_744delinsA	NP_000773.2:p.Thr248AsnfsTer5
NM_001128915.1:c.743_744delinsA	NP_001122387.1:p.Thr248AsnfsTer5
XM_005260304.3:c.743_744delinsA	XP_005260361.1:p.Thr248AsnfsTer5
XM_005260304.5:c.743_744delinsA	XP_005260361.1:p.Thr248AsnfsTer5
XM_017027691.2:c.743_744delinsA	XP_016883180.1:p.Thr248AsnfsTer5
XM_017027692.2:c.743_744delinsA	XP_016883181.1:p.Thr248AsnfsTer5
XM_017027693.2:c.743_744delinsA	XP_016883182.1:p.Thr248AsnfsTer5
NM_000782.5:c.743_744delinsA MANE Select	NP_000773.2:p.Thr248AsnfsTer5
NM_001128915.2:c.743_744delinsA	NP_001122387.1:p.Thr248AsnfsTer5