Canonical Allele Identifier: CA622171162

Gene: HSD3B7

Linked Data

• dbSNP Id: rs1272998641
• gnomAD v2: 16-30997877-CTAAG-C
• gnomAD v3: 16-30986556-CTAAG-C
• gnomAD v4: 16-30986556-CTAAG-C
• MyVariant Identifiers: chr16:g.30997878_30997881del (hg19) ; chr16:g.30986557_30986560del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986557_30986560del , CM000678.2:g.30986557_30986560del	GRCh38
NC_000016.9:g.30997878_30997881del , CM000678.1:g.30997878_30997881del	GRCh37
NC_000016.8:g.30905379_30905382del	NCBI36
NG_012346.1:g.6360_6363del
NG_052948.1:g.34264_34267del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.431+26_431+29del MANE Select	ENSP00000297679.5:n.431+26_431+29del
ENST00000262520.10:c.431+26_431+29del	ENSP00000262520.6:n.431+26_431+29del
ENST00000297679.9:c.431+26_431+29del	ENSP00000297679.5:n.431+26_431+29del
ENST00000562932.5:c.554+26_554+29del	ENSP00000459852.1:n.554+26_554+29del
ENST00000574447.1:c.431+26_431+29del	ENSP00000459689.1:n.431+26_431+29del
NM_001142777.1:c.431+26_431+29del	NP_001136249.1:n.431+26_431+29del
NM_001142778.1:c.431+26_431+29del	NP_001136250.1:n.431+26_431+29del
NM_025193.3:c.431+26_431+29del	NP_079469.2:n.431+26_431+29del
XM_005255601.3:c.431+26_431+29del	XP_005255658.2:n.431+26_431+29del
XM_011545960.1:c.431+26_431+29del	XP_011544262.1:n.431+26_431+29del
XM_011545961.1:c.431+26_431+29del	XP_011544263.1:n.431+26_431+29del
XM_011545962.1:c.431+26_431+29del	XP_011544264.1:n.431+26_431+29del
XM_011545960.2:c.431+26_431+29del	XP_011544262.1:n.431+26_431+29del
XM_011545962.2:c.431+26_431+29del	XP_011544264.1:n.431+26_431+29del
XM_017023732.1:c.431+26_431+29del	XP_016879221.1:n.431+26_431+29del
NM_025193.4:c.431+26_431+29del MANE Select	NP_079469.2:n.431+26_431+29del
NM_001142777.2:c.431+26_431+29del	NP_001136249.1:n.431+26_431+29del
NM_001142778.2:c.431+26_431+29del	NP_001136250.1:n.431+26_431+29del