Canonical Allele Identifier: CA622171176

Gene: HSD3B7

Linked Data

• dbSNP Id: rs1359053341
• gnomAD v2: 16-30997958-AC-A
• MyVariant Identifiers: chr16:g.30997959del (hg19) ; chr16:g.30986638del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986638del , CM000678.2:g.30986638del	GRCh38
NC_000016.9:g.30997959del , CM000678.1:g.30997959del	GRCh37
NC_000016.8:g.30905460del	NCBI36
NG_012346.1:g.6441del
NG_052948.1:g.34345del

Transcript Alleles

HGVS	Amino-acid change
ENST00000297679.10:c.465del MANE Select	ENSP00000297679.5:p.His155GlnfsTer?
ENST00000262520.10:c.465del	ENSP00000262520.6:p.His155GlnfsTer?
ENST00000297679.9:c.465del	ENSP00000297679.5:p.His155GlnfsTer?
ENST00000562932.5:c.588del	ENSP00000459852.1:p.His196GlnfsTer?
ENST00000574447.1:c.465del	ENSP00000459689.1:p.His155GlnfsTer?
NM_001142777.1:c.465del	NP_001136249.1:p.His155GlnfsTer?
NM_001142778.1:c.465del	NP_001136250.1:p.His155GlnfsTer?
NM_025193.3:c.465del	NP_079469.2:p.His155GlnfsTer?
XM_005255601.3:c.465del	XP_005255658.2:p.His155GlnfsTer?
XM_011545960.1:c.465del	XP_011544262.1:p.His155GlnfsTer?
XM_011545961.1:c.465del	XP_011544263.1:p.His155GlnfsTer?
XM_011545962.1:c.465del	XP_011544264.1:p.His155GlnfsTer?
XM_011545960.2:c.465del	XP_011544262.1:p.His155GlnfsTer?
XM_011545962.2:c.465del	XP_011544264.1:p.His155GlnfsTer?
XM_017023732.1:c.465del	XP_016879221.1:p.His155GlnfsTer?
NM_025193.4:c.465del MANE Select	NP_079469.2:p.His155GlnfsTer?
NM_001142777.2:c.465del	NP_001136249.1:p.His155GlnfsTer?
NM_001142778.2:c.465del	NP_001136250.1:p.His155GlnfsTer?