Canonical Allele Identifier: CA8017994

Gene: HSD3B7

Linked Data

• dbSNP Id: rs749799670
• ExAC: 16:30997905 TCTTC / T
• gnomAD v3: 16-30986584-TCTTC-T
• gnomAD v4: 16-30986584-TCTTC-T
• MyVariant Identifiers: chr16:g.30997906_30997909del (hg19) ; chr16:g.30986586_30986589del (hg38) ; chr16:g.30986585_30986588del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986589_30986592del , CM000678.2:g.30986589_30986592del	GRCh38
NC_000016.9:g.30997910_30997913del , CM000678.1:g.30997910_30997913del	GRCh37
NC_000016.8:g.30905411_30905414del	NCBI36
NG_012346.1:g.6392_6395del
NG_052948.1:g.34296_34299del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.432-16_432-13del MANE Select	ENSP00000297679.5:n.432-16_432-13del
ENST00000262520.10:c.432-16_432-13del	ENSP00000262520.6:n.432-16_432-13del
ENST00000297679.9:c.432-16_432-13del	ENSP00000297679.5:n.432-16_432-13del
ENST00000562932.5:c.555-16_555-13del	ENSP00000459852.1:n.555-16_555-13del
ENST00000574447.1:c.432-16_432-13del	ENSP00000459689.1:n.432-16_432-13del
NM_001142777.1:c.432-16_432-13del	NP_001136249.1:n.432-16_432-13del
NM_001142778.1:c.432-16_432-13del	NP_001136250.1:n.432-16_432-13del
NM_025193.3:c.432-16_432-13del	NP_079469.2:n.432-16_432-13del
XM_005255601.3:c.432-16_432-13del	XP_005255658.2:n.432-16_432-13del
XM_011545960.1:c.432-16_432-13del	XP_011544262.1:n.432-16_432-13del
XM_011545961.1:c.432-16_432-13del	XP_011544263.1:n.432-16_432-13del
XM_011545962.1:c.432-16_432-13del	XP_011544264.1:n.432-16_432-13del
XM_011545960.2:c.432-16_432-13del	XP_011544262.1:n.432-16_432-13del
XM_011545962.2:c.432-16_432-13del	XP_011544264.1:n.432-16_432-13del
XM_017023732.1:c.432-16_432-13del	XP_016879221.1:n.432-16_432-13del
NM_025193.4:c.432-16_432-13del MANE Select	NP_079469.2:n.432-16_432-13del
NM_001142777.2:c.432-16_432-13del	NP_001136249.1:n.432-16_432-13del
NM_001142778.2:c.432-16_432-13del	NP_001136250.1:n.432-16_432-13del