Canonical Allele Identifier: CA7656448
Gene: CYP11A1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.74343132del
GRCh37 chr15:g.74635473del
gnomAD v2:
15:74635472 AT / A
gnomAD v3:
15:74343131 AT / A
gnomAD v4:
chr15-74343131-AT-A
Joint Max Group AF 0.00005958 (NFE)
Genomes Max Group AF 0.00007911 (NFE)
Exomes Max Group AF 0.0000551 (NFE)
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'