Canonical Allele Identifier: CA913190930

Gene: HSD3B7

Linked Data

• ClinVar Variation Id: 593957
• ClinVar RCV Id: RCV000729136
• dbSNP Id: rs1567371518

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986626del , CM000678.2:g.30986626del	GRCh38
NC_000016.9:g.30997947del , CM000678.1:g.30997947del	GRCh37
NC_000016.8:g.30905448del	NCBI36
NG_012346.1:g.6429del
NG_052948.1:g.34333del

Transcript Alleles

HGVS	Amino-acid change
ENST00000297679.10:c.453del MANE Select	ENSP00000297679.5:p.Tyr151Ter
ENST00000262520.10:c.453del	ENSP00000262520.6:p.Tyr151Ter
ENST00000297679.9:c.453del	ENSP00000297679.5:p.Tyr151Ter
ENST00000562932.5:c.576del	ENSP00000459852.1:p.Tyr192Ter
ENST00000574447.1:c.453del	ENSP00000459689.1:p.Tyr151Ter
NM_001142777.1:c.453del	NP_001136249.1:p.Tyr151Ter
NM_001142778.1:c.453del	NP_001136250.1:p.Tyr151Ter
NM_025193.3:c.453del	NP_079469.2:p.Tyr151Ter
XM_005255601.3:c.453del	XP_005255658.2:p.Tyr151Ter
XM_011545960.1:c.453del	XP_011544262.1:p.Tyr151Ter
XM_011545961.1:c.453del	XP_011544263.1:p.Tyr151Ter
XM_011545962.1:c.453del	XP_011544264.1:p.Tyr151Ter
XM_011545960.2:c.453del	XP_011544262.1:p.Tyr151Ter
XM_011545962.2:c.453del	XP_011544264.1:p.Tyr151Ter
XM_017023732.1:c.453del	XP_016879221.1:p.Tyr151Ter
NM_025193.4:c.453del MANE Select	NP_079469.2:p.Tyr151Ter
NM_001142777.2:c.453del	NP_001136249.1:p.Tyr151Ter
NM_001142778.2:c.453del	NP_001136250.1:p.Tyr151Ter