Canonical Allele Identifier: CA913190929

Gene: HSD3B7

Linked Data

• ClinVar Variation Id: 593981
• ClinVar RCV Id: RCV000729171
• dbSNP Id: rs1567370784

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986150_30986163del , CM000678.2:g.30986150_30986163del	GRCh38
NC_000016.9:g.30997471_30997484del , CM000678.1:g.30997471_30997484del	GRCh37
NC_000016.8:g.30904972_30904985del	NCBI36
NG_012346.1:g.5953_5966del
NG_052948.1:g.33857_33870del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.268_281del MANE Select	ENSP00000297679.5:p.Val90GlnfsTer9
ENST00000262520.10:c.268_281del	ENSP00000262520.6:p.Val90GlnfsTer9
ENST00000297679.9:c.268_281del	ENSP00000297679.5:p.Val90GlnfsTer9
ENST00000562932.5:c.391_404del	ENSP00000459852.1:p.Val131GlnfsTer9
ENST00000574447.1:c.268_281del	ENSP00000459689.1:p.Val90GlnfsTer9
NM_001142777.1:c.268_281del	NP_001136249.1:p.Val90GlnfsTer9
NM_001142778.1:c.268_281del	NP_001136250.1:p.Val90GlnfsTer9
NM_025193.3:c.268_281del	NP_079469.2:p.Val90GlnfsTer9
XM_005255601.3:c.268_281del	XP_005255658.2:p.Val90GlnfsTer9
XM_011545960.1:c.268_281del	XP_011544262.1:p.Val90GlnfsTer9
XM_011545961.1:c.268_281del	XP_011544263.1:p.Val90GlnfsTer9
XM_011545962.1:c.268_281del	XP_011544264.1:p.Val90GlnfsTer9
XM_011545960.2:c.268_281del	XP_011544262.1:p.Val90GlnfsTer9
XM_011545962.2:c.268_281del	XP_011544264.1:p.Val90GlnfsTer9
XM_017023732.1:c.268_281del	XP_016879221.1:p.Val90GlnfsTer9
NM_025193.4:c.268_281del MANE Select	NP_079469.2:p.Val90GlnfsTer9
NM_001142777.2:c.268_281del	NP_001136249.1:p.Val90GlnfsTer9
NM_001142778.2:c.268_281del	NP_001136250.1:p.Val90GlnfsTer9