Canonical Allele Identifier: CA2216821173

Gene: HSD3B7

Linked Data

• dbSNP Id: rs2056472626
• gnomAD v4: 16-30986176-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986178del , CM000678.2:g.30986178del	GRCh38
NC_000016.9:g.30997499del , CM000678.1:g.30997499del	GRCh37
NC_000016.8:g.30905000del	NCBI36
NG_012346.1:g.5981del
NG_052948.1:g.33885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.296del MANE Select	ENSP00000297679.5:p.Lys99ArgfsTer14
ENST00000262520.10:c.296del	ENSP00000262520.6:p.Lys99ArgfsTer14
ENST00000297679.9:c.296del	ENSP00000297679.5:p.Lys99ArgfsTer14
ENST00000562932.5:c.419del	ENSP00000459852.1:p.Lys140ArgfsTer14
ENST00000574447.1:c.296del	ENSP00000459689.1:p.Lys99ArgfsTer14
NM_001142777.1:c.296del	NP_001136249.1:p.Lys99ArgfsTer14
NM_001142778.1:c.296del	NP_001136250.1:p.Lys99ArgfsTer14
NM_025193.3:c.296del	NP_079469.2:p.Lys99ArgfsTer14
XM_005255601.3:c.296del	XP_005255658.2:p.Lys99ArgfsTer14
XM_011545960.1:c.296del	XP_011544262.1:p.Lys99ArgfsTer14
XM_011545961.1:c.296del	XP_011544263.1:p.Lys99ArgfsTer14
XM_011545962.1:c.296del	XP_011544264.1:p.Lys99ArgfsTer14
XM_011545960.2:c.296del	XP_011544262.1:p.Lys99ArgfsTer14
XM_011545962.2:c.296del	XP_011544264.1:p.Lys99ArgfsTer14
XM_017023732.1:c.296del	XP_016879221.1:p.Lys99ArgfsTer14
NM_025193.4:c.296del MANE Select	NP_079469.2:p.Lys99ArgfsTer14
NM_001142777.2:c.296del	NP_001136249.1:p.Lys99ArgfsTer14
NM_001142778.2:c.296del	NP_001136250.1:p.Lys99ArgfsTer14