Canonical Allele Identifier: CA2632803934

Gene: HSD3B7

Linked Data

• gnomAD v4: 16-30986695-C-CGGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986698_30986701dup , CM000678.2:g.30986698_30986701dup	GRCh38
NC_000016.9:g.30998019_30998022dup , CM000678.1:g.30998019_30998022dup	GRCh37
NC_000016.8:g.30905520_30905523dup	NCBI36
NG_012346.1:g.6501_6504dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.525_528dup MANE Select	ENSP00000297679.5:p.Lys177GlufsTer22
ENST00000262520.10:c.525_528dup	ENSP00000262520.6:p.Lys177GlufsTer?
ENST00000297679.9:c.525_528dup	ENSP00000297679.5:p.Lys177GlufsTer22
ENST00000562932.5:c.648_651dup	ENSP00000459852.1:p.Lys218GlufsTer?
ENST00000574447.1:c.525_528dup
NM_001142777.1:c.525_528dup	NP_001136249.1:p.Lys177GlufsTer?
NM_001142778.1:c.525_528dup	NP_001136250.1:p.Lys177GlufsTer?
NM_025193.3:c.525_528dup	NP_079469.2:p.Lys177GlufsTer22
XM_005255601.3:c.525_528dup	XP_005255658.2:p.Lys177GlufsTer22
XM_011545960.1:c.525_528dup	XP_011544262.1:p.Lys177GlufsTer22
XM_011545961.1:c.525_528dup	XP_011544263.1:p.Lys177GlufsTer22
XM_011545962.1:c.525_528dup	XP_011544264.1:p.Lys177GlufsTer?
XM_011545960.2:c.525_528dup	XP_011544262.1:p.Lys177GlufsTer22
XM_011545962.2:c.525_528dup	XP_011544264.1:p.Lys177GlufsTer?
XM_017023732.1:c.525_528dup	XP_016879221.1:p.Lys177GlufsTer?
NM_025193.4:c.525_528dup MANE Select	NP_079469.2:p.Lys177GlufsTer22
NM_001142777.2:c.525_528dup	NP_001136249.1:p.Lys177GlufsTer?
NM_001142778.2:c.525_528dup	NP_001136250.1:p.Lys177GlufsTer?