Canonical Allele Identifier: CA2187637963

Gene: CYP11A1

Linked Data

• dbSNP Id: rs2060597446

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74339672_74339675del , CM000677.2:g.74339672_74339675del	GRCh38
NC_000015.9:g.74632013_74632016del , CM000677.1:g.74632013_74632016del	GRCh37
NC_000015.8:g.72419066_72419069del	NCBI36
NG_007973.1:g.33067_33070del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.1069_1072del MANE Select	ENSP00000268053.6:p.Ala358ArgfsTer27
ENST00000268053.10:c.1069_1072del	ENSP00000268053.6:p.Ala358ArgfsTer27
ENST00000358632.8:c.595_598del	ENSP00000351455.4:p.Ala200ArgfsTer27
ENST00000435365.5:c.1069_1072del	ENSP00000391081.1:p.Ala358ArgfsTer27
ENST00000566674.5:c.595_598del	ENSP00000456941.1:p.Ala200ArgfsTer27
NM_000781.2:c.1069_1072del	NP_000772.2:p.Ala358ArgfsTer27
NM_001099773.1:c.595_598del	NP_001093243.1:p.Ala200ArgfsTer27
NM_000781.3:c.1069_1072del MANE Select	NP_000772.2:p.Ala358ArgfsTer27
NM_001099773.2:c.595_598del	NP_001093243.1:p.Ala200ArgfsTer27