Canonical Allele Identifier: CA7656399

Gene: CYP11A1

Linked Data

• dbSNP Id: rs764953810
• ExAC: 15:74632099 TG / T
• gnomAD v2: 15-74632099-TG-T
• gnomAD v4: 15-74339758-TG-T
• MyVariant Identifiers: chr15:g.74632100del (hg19) ; chr15:g.74339759del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74339762del , CM000677.2:g.74339762del	GRCh38
NC_000015.9:g.74632103del , CM000677.1:g.74632103del	GRCh37
NC_000015.8:g.72419156del	NCBI36
NG_007973.1:g.32983del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.991-6del MANE Select	ENSP00000268053.6:n.991-6del
ENST00000268053.10:c.991-6del	ENSP00000268053.6:n.991-6del
ENST00000358632.8:c.517-6del	ENSP00000351455.4:n.517-6del
ENST00000435365.5:c.991-6del	ENSP00000391081.1:n.991-6del
ENST00000566674.5:c.517-6del	ENSP00000456941.1:n.517-6del
NM_000781.2:c.991-6del	NP_000772.2:n.991-6del
NM_001099773.1:c.517-6del	NP_001093243.1:n.517-6del
NM_000781.3:c.991-6del MANE Select	NP_000772.2:n.991-6del
NM_001099773.2:c.517-6del	NP_001093243.1:n.517-6del