Canonical Allele Identifier: CA8017906

Gene: HSD3B7

Linked Data

• dbSNP Id: rs756168213
• ExAC: 16:30997326 T / TGGCC
• gnomAD v2: 16-30997326-T-TGGCC
• gnomAD v3: 16-30986005-T-TGGCC
• gnomAD v4: 16-30986005-T-TGGCC
• MyVariant Identifiers: chr16:g.30997326_30997327insGGCC (hg19) ; chr16:g.30986005_30986006insGGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986006_30986009dup , CM000678.2:g.30986006_30986009dup	GRCh38
NC_000016.9:g.30997327_30997330dup , CM000678.1:g.30997327_30997330dup	GRCh37
NC_000016.8:g.30904828_30904831dup	NCBI36
NG_012346.1:g.5809_5812dup
NG_052948.1:g.33713_33716dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.167-43_167-40dup MANE Select	ENSP00000297679.5:n.167-43_167-40dup
ENST00000262520.10:c.167-43_167-40dup	ENSP00000262520.6:n.167-43_167-40dup
ENST00000297679.9:c.167-43_167-40dup	ENSP00000297679.5:n.167-43_167-40dup
ENST00000562932.5:c.290-43_290-40dup	ENSP00000459852.1:n.290-43_290-40dup
ENST00000574447.1:c.167-43_167-40dup	ENSP00000459689.1:n.167-43_167-40dup
NM_001142777.1:c.167-43_167-40dup	NP_001136249.1:n.167-43_167-40dup
NM_001142778.1:c.167-43_167-40dup	NP_001136250.1:n.167-43_167-40dup
NM_025193.3:c.167-43_167-40dup	NP_079469.2:n.167-43_167-40dup
XM_005255601.3:c.167-43_167-40dup	XP_005255658.2:n.167-43_167-40dup
XM_011545960.1:c.167-43_167-40dup	XP_011544262.1:n.167-43_167-40dup
XM_011545961.1:c.167-43_167-40dup	XP_011544263.1:n.167-43_167-40dup
XM_011545962.1:c.167-43_167-40dup	XP_011544264.1:n.167-43_167-40dup
XM_011545960.2:c.167-43_167-40dup	XP_011544262.1:n.167-43_167-40dup
XM_011545962.2:c.167-43_167-40dup	XP_011544264.1:n.167-43_167-40dup
XM_017023732.1:c.167-43_167-40dup	XP_016879221.1:n.167-43_167-40dup
NM_025193.4:c.167-43_167-40dup MANE Select	NP_079469.2:n.167-43_167-40dup
NM_001142777.2:c.167-43_167-40dup	NP_001136249.1:n.167-43_167-40dup
NM_001142778.2:c.167-43_167-40dup	NP_001136250.1:n.167-43_167-40dup