Canonical Allele Identifier: CA2632804115

Gene: HSD3B7

Linked Data

• gnomAD v4: 16-30986958-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986960del , CM000678.2:g.30986960del	GRCh38
NC_000016.9:g.30998281del , CM000678.1:g.30998281del	GRCh37
NC_000016.8:g.30905782del	NCBI36
NG_012346.1:g.6763del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.652del MANE Select	ENSP00000297679.5:p.Arg218GlyfsTer?
ENST00000262520.10:c.531+256del	ENSP00000262520.6:n.531+256del
ENST00000297679.9:c.652del	ENSP00000297679.5:p.Arg218GlyfsTer?
NM_001142777.1:c.531+256del	NP_001136249.1:n.531+256del
NM_001142778.1:c.531+256del	NP_001136250.1:n.531+256del
NM_025193.3:c.652del	NP_079469.2:p.Arg218GlyfsTer?
XM_005255601.3:c.652del	XP_005255658.2:p.Arg218GlyfsTer?
XM_011545960.1:c.652del	XP_011544262.1:p.Arg218GlyfsTer?
XM_011545961.1:c.652del	XP_011544263.1:p.Arg218GlyfsTer?
XM_011545962.1:c.531+256del	XP_011544264.1:n.531+256del
XM_011545960.2:c.652del	XP_011544262.1:p.Arg218GlyfsTer?
XM_011545962.2:c.531+256del	XP_011544264.1:n.531+256del
XM_017023732.1:c.531+256del	XP_016879221.1:n.531+256del
NM_025193.4:c.652del MANE Select	NP_079469.2:p.Arg218GlyfsTer?
NM_001142777.2:c.531+256del	NP_001136249.1:n.531+256del
NM_001142778.2:c.531+256del	NP_001136250.1:n.531+256del