Canonical Allele Identifier: CA7656448

Gene: CYP11A1

Linked Data

• ClinVar Variation Id: 265094
• ClinVar RCV Id: RCV000019071 ; RCV000255976 ; RCV003409385
• dbSNP Id: rs757299093
• ExAC: 15:74635472 AT / A
• gnomAD v2: 15-74635472-AT-A
• gnomAD v3: 15-74343131-AT-A
• gnomAD v4: 15-74343131-AT-A
• MyVariant Identifiers: chr15:g.74635473del (hg19) ; chr15:g.74343132del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74343132del , CM000677.2:g.74343132del	GRCh38
NC_000015.9:g.74635473del , CM000677.1:g.74635473del	GRCh37
NC_000015.8:g.72422526del	NCBI36
NG_007973.1:g.29610del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.835del MANE Select	ENSP00000268053.6:p.Ile279TyrfsTer10
ENST00000268053.10:c.835del	ENSP00000268053.6:p.Ile279TyrfsTer10
ENST00000358632.8:c.361del	ENSP00000351455.4:p.Ile121TyrfsTer10
ENST00000435365.5:c.835del	ENSP00000391081.1:p.Ile279TyrfsTer10
ENST00000566674.5:c.361del	ENSP00000456941.1:p.Ile121TyrfsTer10
NM_000781.2:c.835del	NP_000772.2:p.Ile279TyrfsTer10
NM_001099773.1:c.361del	NP_001093243.1:p.Ile121TyrfsTer10
NM_000781.3:c.835del MANE Select	NP_000772.2:p.Ile279TyrfsTer10
NM_001099773.2:c.361del	NP_001093243.1:p.Ile121TyrfsTer10