Canonical Allele Identifier: CA2632795901

Gene: HSD3B7

Linked Data

• gnomAD v4: 16-30987948-ACTGGCTGCTGGTGTTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30987957_30987972del , CM000678.2:g.30987957_30987972del	GRCh38
NC_000016.9:g.30999278_30999293del , CM000678.1:g.30999278_30999293del	GRCh37
NC_000016.8:g.30906779_30906794del	NCBI36
NG_012346.1:g.7760_7775del
NG_041829.1:g.27545_27560del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.884_899del MANE Select	ENSP00000297679.5:p.Leu295ProfsTer20
ENST00000262520.10:c.*130_*145del	ENSP00000262520.6:n.*130_*145del
ENST00000297679.9:c.884_899del	ENSP00000297679.5:p.Leu295ProfsTer20
NM_001142777.1:c.*130_*145del	NP_001136249.1:n.*130_*145del
NM_001142778.1:c.*130_*145del	NP_001136250.1:n.*130_*145del
NM_025193.3:c.884_899del	NP_079469.2:p.Leu295ProfsTer20
XM_005255601.3:c.884_899del	XP_005255658.2:p.Leu295ProfsTer20
XM_011545960.1:c.884_899del	XP_011544262.1:p.Leu295ProfsTer20
XM_011545961.1:c.884_899del	XP_011544263.1:p.Leu295ProfsTer20
XM_011545960.2:c.884_899del	XP_011544262.1:p.Leu295ProfsTer20
XM_011545962.2:c.*130_*145del	XP_011544264.1:n.*130_*145del
XM_017023732.1:c.*130_*145del	XP_016879221.1:n.*130_*145del
NM_025193.4:c.884_899del MANE Select	NP_079469.2:p.Leu295ProfsTer20
NM_001142777.2:c.*130_*145del	NP_001136249.1:n.*130_*145del
NM_001142778.2:c.*130_*145del	NP_001136250.1:n.*130_*145del