Canonical Allele Identifier: CA622171244

Gene: HSD3B7

Linked Data

• dbSNP Id: rs1274737307
• gnomAD v2: 16-30999192-G-GTGA
• gnomAD v3: 16-30987871-G-GTGA
• gnomAD v4: 16-30987871-G-GTGA
• MyVariant Identifiers: chr16:g.30999192_30999193insTGA (hg19) ; chr16:g.30987871_30987872insTGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30987871_30987872insTGA , CM000678.2:g.30987871_30987872insTGA	GRCh38
NC_000016.9:g.30999192_30999193insTGA , CM000678.1:g.30999192_30999193insTGA	GRCh37
NC_000016.8:g.30906693_30906694insTGA	NCBI36
NG_012346.1:g.7674_7675insTGA
NG_041829.1:g.27637_27638insTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.798_799insTGA
ENST00000262520.10:c.*44_*45insTGA	ENSP00000262520.6:n.*44_*45insTGA
ENST00000297679.9:c.798_799insTGA
NM_001142777.1:c.*44_*45insTGA	NP_001136249.1:n.*44_*45insTGA
NM_001142778.1:c.*44_*45insTGA	NP_001136250.1:n.*44_*45insTGA
NM_025193.3:c.798_799insTGA
XM_005255601.3:c.798_799insTGA
XM_011545960.1:c.798_799insTGA
XM_011545961.1:c.798_799insTGA
XM_011545962.1:c.*44_*45insTGA	XP_011544264.1:n.*44_*45insTGA
XM_011545960.2:c.798_799insTGA
XM_011545962.2:c.*44_*45insTGA	XP_011544264.1:n.*44_*45insTGA
XM_017023732.1:c.*44_*45insTGA	XP_016879221.1:n.*44_*45insTGA
NM_025193.4:c.798_799insTGA
NM_001142777.2:c.*44_*45insTGA	NP_001136249.1:n.*44_*45insTGA
NM_001142778.2:c.*44_*45insTGA	NP_001136250.1:n.*44_*45insTGA