Canonical Allele Identifier: CA2629471188

Gene: CYP11A1

Linked Data

• gnomAD v4: 15-74347760-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74347764del , CM000677.2:g.74347764del	GRCh38
NC_000015.9:g.74640105del , CM000677.1:g.74640105del	GRCh37
NC_000015.8:g.72427158del	NCBI36
NG_007973.1:g.24981del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.425+139del MANE Select	ENSP00000268053.6:n.425+139del
ENST00000268053.10:c.425+139del	ENSP00000268053.6:n.425+139del
ENST00000358632.8:c.-50+139del	ENSP00000351455.4:n.-50+139del
ENST00000416978.1:c.425+139del	ENSP00000388018.1:n.425+139del
ENST00000435365.5:c.425+139del	ENSP00000391081.1:n.425+139del
ENST00000450547.1:c.-50+139del	ENSP00000402064.1:n.-50+139del
ENST00000466978.1:n.819+139del
ENST00000566674.5:c.-50+139del	ENSP00000456941.1:n.-50+139del
ENST00000569662.1:c.-49-2518del	ENSP00000456598.1:n.-49-2518del
NM_000781.2:c.425+139del	NP_000772.2:n.425+139del
NM_001099773.1:c.-50+139del	NP_001093243.1:n.-50+139del
NM_000781.3:c.425+139del MANE Select	NP_000772.2:n.425+139del
NM_001099773.2:c.-50+139del	NP_001093243.1:n.-50+139del