Canonical Allele Identifier: CA2739275963
Gene: CYP17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2811911
ClinVar RCV Id: RCV003685145
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102835353_102835366del , CM000672.2:g.102835353_102835366del GRCh38
NC_000010.10:g.104595110_104595123del , CM000672.1:g.104595110_104595123del GRCh37
NC_000010.9:g.104585100_104585113del NCBI36
NG_007955.1:g.7170_7183del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369887.4:c.326_339del MANE Select ENSP00000358903.3:p.Arg109LeufsTer3
ENST00000638190.1:c.326_339del ENSP00000492539.1:p.Arg109LeufsTer3
ENST00000638272.1:c.297+1701_297+1714del ENSP00000491508.1:n.297+1701_297+1714del
ENST00000638971.1:c.326_339del ENSP00000492313.1:p.Arg109LeufsTer3
ENST00000639393.1:c.326_339del ENSP00000492651.1:p.Arg109LeufsTer3
ENST00000640633.1:n.88_101del
ENST00000369887.3:c.326_339del ENSP00000358903.3:p.Arg109LeufsTer3
ENST00000489268.1:n.580_593del
NM_000102.3:c.326_339del NP_000093.1:p.Arg109LeufsTer3
NM_000102.4:c.326_339del MANE Select NP_000093.1:p.Arg109LeufsTer3
Search 100 bp 5'
Search 100 bp 3'