Canonical Allele Identifier: CA8018115

Gene: HSD3B7

Linked Data

• ClinVar Variation Id: 3045782
• ClinVar RCV Id: RCV003951486
• dbSNP Id: rs775260292
• ExAC: 16:30999177 TGGATCACCCTACAGGAGCTACGA / T
• gnomAD v2: 16-30999177-TGGATCACCCTACAGGAGCTACGA-T
• gnomAD v4: 16-30987856-TGGATCACCCTACAGGAGCTACGA-T
• MyVariant Identifiers: chr16:g.30999178_30999200del (hg19) ; chr16:g.30987857_30987879del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30987861_30987883del , CM000678.2:g.30987861_30987883del	GRCh38
NC_000016.9:g.30999182_30999204del , CM000678.1:g.30999182_30999204del	GRCh37
NC_000016.8:g.30906683_30906705del	NCBI36
NG_012346.1:g.7664_7686del
NG_041829.1:g.27630_27652del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.788_810del MANE Select	ENSP00000297679.5:p.Ser263PhefsTer?
ENST00000262520.10:c.*34_*56del	ENSP00000262520.6:n.*34_*56del
ENST00000297679.9:c.788_810del	ENSP00000297679.5:p.Ser263PhefsTer?
NM_001142777.1:c.*34_*56del	NP_001136249.1:n.*34_*56del
NM_001142778.1:c.*34_*56del	NP_001136250.1:n.*34_*56del
NM_025193.3:c.788_810del	NP_079469.2:p.Ser263PhefsTer?
XM_005255601.3:c.788_810del	XP_005255658.2:p.Ser263PhefsTer?
XM_011545960.1:c.788_810del	XP_011544262.1:p.Ser263PhefsTer?
XM_011545961.1:c.788_810del	XP_011544263.1:p.Ser263PhefsTer?
XM_011545962.1:c.*34_*56del	XP_011544264.1:n.*34_*56del
XM_011545960.2:c.788_810del	XP_011544262.1:p.Ser263PhefsTer?
XM_011545962.2:c.*34_*56del	XP_011544264.1:n.*34_*56del
XM_017023732.1:c.*34_*56del	XP_016879221.1:n.*34_*56del
NM_025193.4:c.788_810del MANE Select	NP_079469.2:p.Ser263PhefsTer?
NM_001142777.2:c.*34_*56del	NP_001136249.1:n.*34_*56del
NM_001142778.2:c.*34_*56del	NP_001136250.1:n.*34_*56del