Canonical Allele Identifier: CA5669600
Gene: CYP17A1 HGNC NCBI
gnomAD v2:
10:104595163 GC / G
gnomAD v3:
10:102835406 GC / G
gnomAD v4:
chr10-102835406-GC-G
Joint Max Group AF 0.00003791 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00003822 (NFE)
ClinVar Allele:
3178994
ClinVar RCV:
RCV003879427
ClinVar Variation:
3018780
dbSNP:
775111286
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102835407del , CM000672.2:g.102835407del GRCh38
NC_000010.10:g.104595164del , CM000672.1:g.104595164del GRCh37
NC_000010.9:g.104585154del NCBI36
NG_007955.1:g.7127del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369887.4:c.298-15del MANE Select ENSP00000358903.3:n.298-15del
ENST00000638190.1:c.298-15del ENSP00000492539.1:n.298-15del
ENST00000638272.1:c.297+1658del ENSP00000491508.1:n.297+1658del
ENST00000638971.1:c.298-15del ENSP00000492313.1:n.298-15del
ENST00000639393.1:c.298-15del ENSP00000492651.1:n.298-15del
ENST00000640633.1:n.60-15del
ENST00000369887.3:c.298-15del ENSP00000358903.3:n.298-15del
ENST00000489268.1:n.537del
NM_000102.3:c.298-15del NP_000093.1:n.298-15del
NM_000102.4:c.298-15del MANE Select NP_000093.1:n.298-15del
Search 100 bp 5'
Search 100 bp 3'