Canonical Allele Identifier: CA8017903

Gene: HSD3B7

Linked Data

• dbSNP Id: rs752960743
• ExAC: 16:30997313 AGCCTCTG / A
• gnomAD v2: 16-30997313-AGCCTCTG-A
• gnomAD v3: 16-30985992-AGCCTCTG-A
• gnomAD v4: 16-30985992-AGCCTCTG-A
• MyVariant Identifiers: chr16:g.30997314_30997320del (hg19) ; chr16:g.30985993_30985999del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986003_30986009del , CM000678.2:g.30986003_30986009del	GRCh38
NC_000016.9:g.30997324_30997330del , CM000678.1:g.30997324_30997330del	GRCh37
NC_000016.8:g.30904825_30904831del	NCBI36
NG_012346.1:g.5806_5812del
NG_052948.1:g.33710_33716del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.167-46_167-40del MANE Select	ENSP00000297679.5:n.167-46_167-40del
ENST00000262520.10:c.167-46_167-40del	ENSP00000262520.6:n.167-46_167-40del
ENST00000297679.9:c.167-46_167-40del	ENSP00000297679.5:n.167-46_167-40del
ENST00000562932.5:c.290-46_290-40del	ENSP00000459852.1:n.290-46_290-40del
ENST00000574447.1:c.167-46_167-40del	ENSP00000459689.1:n.167-46_167-40del
NM_001142777.1:c.167-46_167-40del	NP_001136249.1:n.167-46_167-40del
NM_001142778.1:c.167-46_167-40del	NP_001136250.1:n.167-46_167-40del
NM_025193.3:c.167-46_167-40del	NP_079469.2:n.167-46_167-40del
XM_005255601.3:c.167-46_167-40del	XP_005255658.2:n.167-46_167-40del
XM_011545960.1:c.167-46_167-40del	XP_011544262.1:n.167-46_167-40del
XM_011545961.1:c.167-46_167-40del	XP_011544263.1:n.167-46_167-40del
XM_011545962.1:c.167-46_167-40del	XP_011544264.1:n.167-46_167-40del
XM_011545960.2:c.167-46_167-40del	XP_011544262.1:n.167-46_167-40del
XM_011545962.2:c.167-46_167-40del	XP_011544264.1:n.167-46_167-40del
XM_017023732.1:c.167-46_167-40del	XP_016879221.1:n.167-46_167-40del
NM_025193.4:c.167-46_167-40del MANE Select	NP_079469.2:n.167-46_167-40del
NM_001142777.2:c.167-46_167-40del	NP_001136249.1:n.167-46_167-40del
NM_001142778.2:c.167-46_167-40del	NP_001136250.1:n.167-46_167-40del