Canonical Allele Identifier: CA2695223277

Gene: HSD3B7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986502dup , CM000678.2:g.30986502dup	GRCh38
NC_000016.9:g.30997823dup , CM000678.1:g.30997823dup	GRCh37
NC_000016.8:g.30905324dup	NCBI36
NG_012346.1:g.6305dup
NG_052948.1:g.34209dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.402dup MANE Select	ENSP00000297679.5:p.Pro135AlafsTer2
ENST00000262520.10:c.402dup	ENSP00000262520.6:p.Pro135AlafsTer2
ENST00000297679.9:c.402dup	ENSP00000297679.5:p.Pro135AlafsTer2
ENST00000562932.5:c.525dup	ENSP00000459852.1:p.Pro176AlafsTer2
ENST00000574447.1:c.402dup	ENSP00000459689.1:p.Pro135AlafsTer2
NM_001142777.1:c.402dup	NP_001136249.1:p.Pro135AlafsTer2
NM_001142778.1:c.402dup	NP_001136250.1:p.Pro135AlafsTer2
NM_025193.3:c.402dup	NP_079469.2:p.Pro135AlafsTer2
XM_005255601.3:c.402dup	XP_005255658.2:p.Pro135AlafsTer2
XM_011545960.1:c.402dup	XP_011544262.1:p.Pro135AlafsTer2
XM_011545961.1:c.402dup	XP_011544263.1:p.Pro135AlafsTer2
XM_011545962.1:c.402dup	XP_011544264.1:p.Pro135AlafsTer2
XM_011545960.2:c.402dup	XP_011544262.1:p.Pro135AlafsTer2
XM_011545962.2:c.402dup	XP_011544264.1:p.Pro135AlafsTer2
XM_017023732.1:c.402dup	XP_016879221.1:p.Pro135AlafsTer2
NM_025193.4:c.402dup MANE Select	NP_079469.2:p.Pro135AlafsTer2
NM_001142777.2:c.402dup	NP_001136249.1:p.Pro135AlafsTer2
NM_001142778.2:c.402dup	NP_001136250.1:p.Pro135AlafsTer2