Canonical Allele Identifier: CA316157217

Gene: CYP24A1

Linked Data

• dbSNP Id: rs995800709
• gnomAD v2: 20-52780888-TGTG-T
• gnomAD v3: 20-54164349-TGTG-T
• gnomAD v4: 20-54164349-TGTG-T
• MyVariant Identifiers: chr20:g.52780889_52780891del (hg19) ; chr20:g.54164350_54164352del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54164353_54164355del , CM000682.2:g.54164353_54164355del	GRCh38
NC_000020.10:g.52780892_52780894del , CM000682.1:g.52780892_52780894del	GRCh37
NC_000020.9:g.52214299_52214301del	NCBI36
NG_008334.1:g.14626_14628del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216862.8:c.844+100_844+102del MANE Select	ENSP00000216862.3:n.844+100_844+102del
ENST00000216862.7:c.844+100_844+102del	ENSP00000216862.3:n.844+100_844+102del
ENST00000395954.3:c.418+100_418+102del	ENSP00000379284.3:n.418+100_418+102del
ENST00000395955.7:c.844+100_844+102del	ENSP00000379285.3:n.844+100_844+102del
ENST00000487593.1:n.97+100_97+102del
NM_000782.4:c.844+100_844+102del	NP_000773.2:n.844+100_844+102del
NM_001128915.1:c.844+100_844+102del	NP_001122387.1:n.844+100_844+102del
XM_005260304.3:c.844+100_844+102del	XP_005260361.1:n.844+100_844+102del
XM_005260304.5:c.844+100_844+102del	XP_005260361.1:n.844+100_844+102del
XM_017027691.2:c.844+100_844+102del	XP_016883180.1:n.844+100_844+102del
XM_017027692.2:c.844+100_844+102del	XP_016883181.1:n.844+100_844+102del
XM_017027693.2:c.844+100_844+102del	XP_016883182.1:n.844+100_844+102del
NM_000782.5:c.844+100_844+102del MANE Select	NP_000773.2:n.844+100_844+102del
NM_001128915.2:c.844+100_844+102del	NP_001122387.1:n.844+100_844+102del