Canonical Allele Identifier: CA2731160687
Gene: CYP11A1 HGNC NCBI

Linked Data

dbSNP Id: rs2141231258

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339600del , CM000677.2:g.74339600del GRCh38
NC_000015.9:g.74631941del , CM000677.1:g.74631941del GRCh37
NC_000015.8:g.72418994del NCBI36
NG_007973.1:g.33143del

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.1145del MANE Select ENSP00000268053.6:p.Lys382ArgfsTer4
ENST00000268053.10:c.1145del ENSP00000268053.6:p.Lys382ArgfsTer4
ENST00000358632.8:c.671del ENSP00000351455.4:p.Lys224ArgfsTer4
ENST00000435365.5:c.1145del ENSP00000391081.1:p.Lys382ArgfsTer4
ENST00000566674.5:c.671del ENSP00000456941.1:p.Lys224ArgfsTer4
NM_000781.2:c.1145del NP_000772.2:p.Lys382ArgfsTer4
NM_001099773.1:c.671del NP_001093243.1:p.Lys224ArgfsTer4
NM_000781.3:c.1145del MANE Select NP_000772.2:p.Lys382ArgfsTer4
NM_001099773.2:c.671del NP_001093243.1:p.Lys224ArgfsTer4