Canonical Allele Identifier: CA10653247

Gene: CYP24A1

Linked Data

• ClinVar Variation Id: 338798
• ClinVar RCV Id: RCV000293863
• dbSNP Id: rs372687331
• gnomAD v2: 20-52770597-GAC-G
• gnomAD v3: 20-54154058-GAC-G
• gnomAD v4: 20-54154058-GAC-G
• MyVariant Identifiers: chr20:g.52770598_52770599del (hg19) ; chr20:g.54154059_54154060del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54154070_54154071del , CM000682.2:g.54154070_54154071del	GRCh38
NC_000020.10:g.52770609_52770610del , CM000682.1:g.52770609_52770610del	GRCh37
NC_000020.9:g.52204016_52204017del	NCBI36
NG_008334.1:g.24918_24919del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216862.8:c.*712_*713del MANE Select	ENSP00000216862.3:n.*712_*713del
ENST00000216862.7:c.*712_*713del	ENSP00000216862.3:n.*712_*713del
ENST00000395955.7:c.*712_*713del	ENSP00000379285.3:n.*712_*713del
NM_000782.4:c.*712_*713del	NP_000773.2:n.*712_*713del
NM_001128915.1:c.*712_*713del	NP_001122387.1:n.*712_*713del
XM_005260304.5:c.*884_*885del	XP_005260361.1:n.*884_*885del
XM_017027691.2:c.*732_*733del	XP_016883180.1:n.*732_*733del
XM_017027692.2:c.*10+3109_*10+3110del	XP_016883181.1:n.*10+3109_*10+3110del
XM_017027693.2:c.*884_*885del	XP_016883182.1:n.*884_*885del
NM_000782.5:c.*712_*713del MANE Select	NP_000773.2:n.*712_*713del
NM_001128915.2:c.*712_*713del	NP_001122387.1:n.*712_*713del