Canonical Allele Identifier: CA912995715

Gene: HSD3B7

Linked Data

• ClinVar Variation Id: 2030273
• ClinVar RCV Id: RCV002881245
• gnomAD v4: 16-30986918-GA-G
• MyVariant Identifiers: chr16:g.30998240del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986919del , CM000678.2:g.30986919del	GRCh38
NC_000016.9:g.30998240del , CM000678.1:g.30998240del	GRCh37
NC_000016.8:g.30905741del	NCBI36
NG_012346.1:g.6722del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.611del MANE Select	ENSP00000297679.5:p.Asp204AlafsTer?
ENST00000262520.10:c.531+215del	ENSP00000262520.6:n.531+215del
ENST00000297679.9:c.611del	ENSP00000297679.5:p.Asp204AlafsTer?
NM_001142777.1:c.531+215del	NP_001136249.1:n.531+215del
NM_001142778.1:c.531+215del	NP_001136250.1:n.531+215del
NM_025193.3:c.611del	NP_079469.2:p.Asp204AlafsTer?
XM_005255601.3:c.611del	XP_005255658.2:p.Asp204AlafsTer?
XM_011545960.1:c.611del	XP_011544262.1:p.Asp204AlafsTer?
XM_011545961.1:c.611del	XP_011544263.1:p.Asp204AlafsTer?
XM_011545962.1:c.531+215del	XP_011544264.1:n.531+215del
XM_011545960.2:c.611del	XP_011544262.1:p.Asp204AlafsTer?
XM_011545962.2:c.531+215del	XP_011544264.1:n.531+215del
XM_017023732.1:c.531+215del	XP_016879221.1:n.531+215del
NM_025193.4:c.611del MANE Select	NP_079469.2:p.Asp204AlafsTer?
NM_001142777.2:c.531+215del	NP_001136249.1:n.531+215del
NM_001142778.2:c.531+215del	NP_001136250.1:n.531+215del