Allele Registry

Canonical Allele Identifier: CA115824

Gene: HSD3B7 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr16:g.30988112_30988113del

GRCh37 chr16:g.30999433_30999434del

Linked Data - Sequence & Population

gnomAD v4:

chr16-30988111-CCT-C

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000003015

ClinVar Variation:

2881

dbSNP:

397514442

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30988112_30988113del , CM000678.2:g.30988112_30988113del	GRCh38
NC_000016.9:g.30999433_30999434del , CM000678.1:g.30999433_30999434del	GRCh37
NC_000016.8:g.30906934_30906935del	NCBI36
NG_012346.1:g.7915_7916del
NG_041829.1:g.27396_27397del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.1039_1040del MANE Select	ENSP00000297679.5:p.Leu347ValfsTer6
ENST00000262520.10:c.285_286del	ENSP00000262520.6:n.285_286del
ENST00000297679.9:c.1039_1040del	ENSP00000297679.5:p.Leu347ValfsTer6
NM_001142777.1:c.285_286del	NP_001136249.1:n.285_286del
NM_001142778.1:c.285_286del	NP_001136250.1:n.285_286del
NM_025193.3:c.1039_1040del	NP_079469.2:p.Leu347ValfsTer6
XM_005255601.3:c.1039_1040del	XP_005255658.2:p.Leu347ValfsTer6
XM_011545960.1:c.1039_1040del	XP_011544262.1:p.Leu347ValfsTer6
XM_011545961.1:c.1039_1040del	XP_011544263.1:p.Leu347ValfsTer6
XM_011545960.2:c.1039_1040del	XP_011544262.1:p.Leu347ValfsTer6
XM_011545962.2:c.285_286del	XP_011544264.1:n.285_286del
XM_017023732.1:c.285_286del	XP_016879221.1:n.285_286del
NM_025193.4:c.1039_1040del MANE Select	NP_079469.2:p.Leu347ValfsTer6
NM_001142777.2:c.285_286del	NP_001136249.1:n.285_286del
NM_001142778.2:c.285_286del	NP_001136250.1:n.285_286del

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