Canonical Allele Identifier: CA2629468486
Gene: CYP11A1 HGNC NCBI

Linked Data

gnomAD v4: 15-74339599-T-TTGA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339602_74339604dup , CM000677.2:g.74339602_74339604dup GRCh38
NC_000015.9:g.74631943_74631945dup , CM000677.1:g.74631943_74631945dup GRCh37
NC_000015.8:g.72418996_72418998dup NCBI36
NG_007973.1:g.33140_33142dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.1142_1144dup MANE Select ENSP00000268053.6:p.Ile381_Lys382insIle
ENST00000268053.10:c.1142_1144dup ENSP00000268053.6:p.Ile381_Lys382insIle
ENST00000358632.8:c.668_670dup ENSP00000351455.4:p.Ile223_Lys224insIle
ENST00000435365.5:c.1142_1144dup ENSP00000391081.1:p.Ile381_Lys382insIle
ENST00000566674.5:c.668_670dup ENSP00000456941.1:p.Ile223_Lys224insIle
NM_000781.2:c.1142_1144dup NP_000772.2:p.Ile381_Lys382insIle
NM_001099773.1:c.668_670dup NP_001093243.1:p.Ile223_Lys224insIle
NM_000781.3:c.1142_1144dup MANE Select NP_000772.2:p.Ile381_Lys382insIle
NM_001099773.2:c.668_670dup NP_001093243.1:p.Ile223_Lys224insIle
Search 100 bp 5'
Search 100 bp 3'