Canonical Allele Identifier: CA622171165

Gene: HSD3B7

Linked Data

• dbSNP Id: rs1167357924
• gnomAD v2: 16-30997499-AGACCATCCATGAG-A
• gnomAD v4: 16-30986178-AGACCATCCATGAG-A
• MyVariant Identifiers: chr16:g.30997500_30997512del (hg19) ; chr16:g.30986179_30986191del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986180_30986192del , CM000678.2:g.30986180_30986192del	GRCh38
NC_000016.9:g.30997501_30997513del , CM000678.1:g.30997501_30997513del	GRCh37
NC_000016.8:g.30905002_30905014del	NCBI36
NG_012346.1:g.5983_5995del
NG_052948.1:g.33887_33899del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.298_310del MANE Select	ENSP00000297679.5:p.Thr100SerfsTer9
ENST00000262520.10:c.298_310del	ENSP00000262520.6:p.Thr100SerfsTer9
ENST00000297679.9:c.298_310del	ENSP00000297679.5:p.Thr100SerfsTer9
ENST00000562932.5:c.421_433del	ENSP00000459852.1:p.Thr141SerfsTer9
ENST00000574447.1:c.298_310del	ENSP00000459689.1:p.Thr100SerfsTer9
NM_001142777.1:c.298_310del	NP_001136249.1:p.Thr100SerfsTer9
NM_001142778.1:c.298_310del	NP_001136250.1:p.Thr100SerfsTer9
NM_025193.3:c.298_310del	NP_079469.2:p.Thr100SerfsTer9
XM_005255601.3:c.298_310del	XP_005255658.2:p.Thr100SerfsTer9
XM_011545960.1:c.298_310del	XP_011544262.1:p.Thr100SerfsTer9
XM_011545961.1:c.298_310del	XP_011544263.1:p.Thr100SerfsTer9
XM_011545962.1:c.298_310del	XP_011544264.1:p.Thr100SerfsTer9
XM_011545960.2:c.298_310del	XP_011544262.1:p.Thr100SerfsTer9
XM_011545962.2:c.298_310del	XP_011544264.1:p.Thr100SerfsTer9
XM_017023732.1:c.298_310del	XP_016879221.1:p.Thr100SerfsTer9
NM_025193.4:c.298_310del MANE Select	NP_079469.2:p.Thr100SerfsTer9
NM_001142777.2:c.298_310del	NP_001136249.1:p.Thr100SerfsTer9
NM_001142778.2:c.298_310del	NP_001136250.1:p.Thr100SerfsTer9