Canonical Allele Identifier: CA2629468526

Gene: CYP11A1

Linked Data

• gnomAD v4: 15-74339694-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74339695del , CM000677.2:g.74339695del	GRCh38
NC_000015.9:g.74632036del , CM000677.1:g.74632036del	GRCh37
NC_000015.8:g.72419089del	NCBI36
NG_007973.1:g.33047del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.1049del MANE Select	ENSP00000268053.6:p.Asp350ValfsTer?
ENST00000268053.10:c.1049del	ENSP00000268053.6:p.Asp350ValfsTer?
ENST00000358632.8:c.575del	ENSP00000351455.4:p.Asp192ValfsTer?
ENST00000435365.5:c.1049del	ENSP00000391081.1:p.Asp350ValfsTer?
ENST00000566674.5:c.575del	ENSP00000456941.1:p.Asp192ValfsTer?
NM_000781.2:c.1049del	NP_000772.2:p.Asp350ValfsTer?
NM_001099773.1:c.575del	NP_001093243.1:p.Asp192ValfsTer?
NM_000781.3:c.1049del MANE Select	NP_000772.2:p.Asp350ValfsTer?
NM_001099773.2:c.575del	NP_001093243.1:p.Asp192ValfsTer?