Canonical Allele Identifier: CA619412087

Gene: CYP11A1

Linked Data

• dbSNP Id: rs1217014229
• gnomAD v2: 15-74640277-T-TG
• gnomAD v4: 15-74347936-T-TG
• MyVariant Identifiers: chr15:g.74640277_74640278insG (hg19) ; chr15:g.74347936_74347937insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74347937dup , CM000677.2:g.74347937dup	GRCh38
NC_000015.9:g.74640278dup , CM000677.1:g.74640278dup	GRCh37
NC_000015.8:g.72427331dup	NCBI36
NG_007973.1:g.24805dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.388dup MANE Select	ENSP00000268053.6:p.His130ProfsTer?
ENST00000268053.10:c.388dup	ENSP00000268053.6:p.His130ProfsTer?
ENST00000358632.8:c.-87dup	ENSP00000351455.4:n.-87dup
ENST00000416978.1:c.388dup	ENSP00000388018.1:p.His130ProfsTer18
ENST00000435365.5:c.388dup	ENSP00000391081.1:p.His130ProfsTer?
ENST00000450547.1:c.-87dup	ENSP00000402064.1:n.-87dup
ENST00000466978.1:n.782dup
ENST00000566674.5:c.-87dup	ENSP00000456941.1:n.-87dup
ENST00000569662.1:c.-49-2694dup	ENSP00000456598.1:n.-49-2694dup
NM_000781.2:c.388dup	NP_000772.2:p.His130ProfsTer?
NM_001099773.1:c.-87dup	NP_001093243.1:n.-87dup
NM_000781.3:c.388dup MANE Select	NP_000772.2:p.His130ProfsTer?
NM_001099773.2:c.-87dup	NP_001093243.1:n.-87dup