Canonical Allele Identifier: CA9915977

Gene: CYP24A1

Linked Data

• dbSNP Id: rs760886293
• ExAC: 20:52780943 CG / C
• gnomAD v2: 20-52780943-CG-C
• gnomAD v3: 20-54164404-CG-C
• gnomAD v4: 20-54164404-CG-C
• MyVariant Identifiers: chr20:g.52780944del (hg19) ; chr20:g.54164405del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54164409del , CM000682.2:g.54164409del	GRCh38
NC_000020.10:g.52780948del , CM000682.1:g.52780948del	GRCh37
NC_000020.9:g.52214355del	NCBI36
NG_008334.1:g.14573del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216862.8:c.844+47del MANE Select	ENSP00000216862.3:n.844+47del
ENST00000216862.7:c.844+47del	ENSP00000216862.3:n.844+47del
ENST00000395954.3:c.418+47del	ENSP00000379284.3:n.418+47del
ENST00000395955.7:c.844+47del	ENSP00000379285.3:n.844+47del
ENST00000487593.1:n.97+47del
NM_000782.4:c.844+47del	NP_000773.2:n.844+47del
NM_001128915.1:c.844+47del	NP_001122387.1:n.844+47del
XM_005260304.3:c.844+47del	XP_005260361.1:n.844+47del
XM_005260304.5:c.844+47del	XP_005260361.1:n.844+47del
XM_017027691.2:c.844+47del	XP_016883180.1:n.844+47del
XM_017027692.2:c.844+47del	XP_016883181.1:n.844+47del
XM_017027693.2:c.844+47del	XP_016883182.1:n.844+47del
NM_000782.5:c.844+47del MANE Select	NP_000773.2:n.844+47del
NM_001128915.2:c.844+47del	NP_001122387.1:n.844+47del