Canonical Allele Identifier: CA2695223282

Gene: HSD3B7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986851dup , CM000678.2:g.30986851dup	GRCh38
NC_000016.9:g.30998172dup , CM000678.1:g.30998172dup	GRCh37
NC_000016.8:g.30905673dup	NCBI36
NG_012346.1:g.6654dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.543dup MANE Select	ENSP00000297679.5:p.Leu182AlafsTer16
ENST00000262520.10:c.531+147dup	ENSP00000262520.6:n.531+147dup
ENST00000297679.9:c.543dup	ENSP00000297679.5:p.Leu182AlafsTer16
NM_001142777.1:c.531+147dup	NP_001136249.1:n.531+147dup
NM_001142778.1:c.531+147dup	NP_001136250.1:n.531+147dup
NM_025193.3:c.543dup	NP_079469.2:p.Leu182AlafsTer16
XM_005255601.3:c.543dup	XP_005255658.2:p.Leu182AlafsTer16
XM_011545960.1:c.543dup	XP_011544262.1:p.Leu182AlafsTer16
XM_011545961.1:c.543dup	XP_011544263.1:p.Leu182AlafsTer16
XM_011545962.1:c.531+147dup	XP_011544264.1:n.531+147dup
XM_011545960.2:c.543dup	XP_011544262.1:p.Leu182AlafsTer16
XM_011545962.2:c.531+147dup	XP_011544264.1:n.531+147dup
XM_017023732.1:c.531+147dup	XP_016879221.1:n.531+147dup
NM_025193.4:c.543dup MANE Select	NP_079469.2:p.Leu182AlafsTer16
NM_001142777.2:c.531+147dup	NP_001136249.1:n.531+147dup
NM_001142778.2:c.531+147dup	NP_001136250.1:n.531+147dup