Canonical Allele Identifier: CA10605605
Gene: HSD3B7 HGNC NCBI

Linked Data

ClinVar Variation Id: 286890
ClinVar RCV Id: RCV000307810 RCV003401255
dbSNP Id: rs886043511
MyVariant Identifiers: chr16:g.30999284del (hg19) chr16:g.30987963del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30987963del , CM000678.2:g.30987963del GRCh38
NC_000016.9:g.30999284del , CM000678.1:g.30999284del GRCh37
NC_000016.8:g.30906785del NCBI36
NG_012346.1:g.7766del
NG_041829.1:g.27547del

Transcript Alleles

HGVS Amino-acid change
ENST00000297679.10:c.890del MANE Select ENSP00000297679.5:p.Phe297SerfsTer23
ENST00000262520.10:c.*136del ENSP00000262520.6:n.*136del
ENST00000297679.9:c.890del ENSP00000297679.5:p.Phe297SerfsTer23
NM_001142777.1:c.*136del NP_001136249.1:n.*136del
NM_001142778.1:c.*136del NP_001136250.1:n.*136del
NM_025193.3:c.890del NP_079469.2:p.Phe297SerfsTer23
XM_005255601.3:c.890del XP_005255658.2:p.Phe297SerfsTer23
XM_011545960.1:c.890del XP_011544262.1:p.Phe297SerfsTer23
XM_011545961.1:c.890del XP_011544263.1:p.Phe297SerfsTer23
XM_011545960.2:c.890del XP_011544262.1:p.Phe297SerfsTer23
XM_011545962.2:c.*136del XP_011544264.1:n.*136del
XM_017023732.1:c.*136del XP_016879221.1:n.*136del
NM_025193.4:c.890del MANE Select NP_079469.2:p.Phe297SerfsTer23
NM_001142777.2:c.*136del NP_001136249.1:n.*136del
NM_001142778.2:c.*136del NP_001136250.1:n.*136del
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