Canonical Allele Identifier: CA2632795871

Gene: HSD3B7

Linked Data

• gnomAD v4: 16-30987917-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30987919del , CM000678.2:g.30987919del	GRCh38
NC_000016.9:g.30999240del , CM000678.1:g.30999240del	GRCh37
NC_000016.8:g.30906741del	NCBI36
NG_012346.1:g.7722del
NG_041829.1:g.27591del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.846del MANE Select	ENSP00000297679.5:p.Leu283TrpfsTer?
ENST00000262520.10:c.*92del	ENSP00000262520.6:n.*92del
ENST00000297679.9:c.846del	ENSP00000297679.5:p.Leu283TrpfsTer?
NM_001142777.1:c.*92del	NP_001136249.1:n.*92del
NM_001142778.1:c.*92del	NP_001136250.1:n.*92del
NM_025193.3:c.846del	NP_079469.2:p.Leu283TrpfsTer?
XM_005255601.3:c.846del	XP_005255658.2:p.Leu283TrpfsTer?
XM_011545960.1:c.846del	XP_011544262.1:p.Leu283TrpfsTer?
XM_011545961.1:c.846del	XP_011544263.1:p.Leu283TrpfsTer?
XM_011545962.1:c.*92del	XP_011544264.1:n.*92del
XM_011545960.2:c.846del	XP_011544262.1:p.Leu283TrpfsTer?
XM_011545962.2:c.*92del	XP_011544264.1:n.*92del
XM_017023732.1:c.*92del	XP_016879221.1:n.*92del
NM_025193.4:c.846del MANE Select	NP_079469.2:p.Leu283TrpfsTer?
NM_001142777.2:c.*92del	NP_001136249.1:n.*92del
NM_001142778.2:c.*92del	NP_001136250.1:n.*92del