Canonical Allele Identifier: CA719898031

Gene: HSD3B7

Linked Data

• dbSNP Id: rs1199042671
• gnomAD v3: 16-30986800-T-TCGGGTCC
• gnomAD v4: 16-30986800-T-TCGGGTCC
• MyVariant Identifiers: chr16:g.30998121_30998122insCGGGTCC (hg19) ; chr16:g.30986800_30986801insCGGGTCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986802_30986808dup , CM000678.2:g.30986802_30986808dup	GRCh38
NC_000016.9:g.30998123_30998129dup , CM000678.1:g.30998123_30998129dup	GRCh37
NC_000016.8:g.30905624_30905630dup	NCBI36
NG_012346.1:g.6605_6611dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.532-38_532-32dup MANE Select	ENSP00000297679.5:n.532-38_532-32dup
ENST00000262520.10:c.531+98_531+104dup	ENSP00000262520.6:n.531+98_531+104dup
ENST00000297679.9:c.532-38_532-32dup	ENSP00000297679.5:n.532-38_532-32dup
NM_001142777.1:c.531+98_531+104dup	NP_001136249.1:n.531+98_531+104dup
NM_001142778.1:c.531+98_531+104dup	NP_001136250.1:n.531+98_531+104dup
NM_025193.3:c.532-38_532-32dup	NP_079469.2:n.532-38_532-32dup
XM_005255601.3:c.532-38_532-32dup	XP_005255658.2:n.532-38_532-32dup
XM_011545960.1:c.532-38_532-32dup	XP_011544262.1:n.532-38_532-32dup
XM_011545961.1:c.532-38_532-32dup	XP_011544263.1:n.532-38_532-32dup
XM_011545962.1:c.531+98_531+104dup	XP_011544264.1:n.531+98_531+104dup
XM_011545960.2:c.532-38_532-32dup	XP_011544262.1:n.532-38_532-32dup
XM_011545962.2:c.531+98_531+104dup	XP_011544264.1:n.531+98_531+104dup
XM_017023732.1:c.531+98_531+104dup	XP_016879221.1:n.531+98_531+104dup
NM_025193.4:c.532-38_532-32dup MANE Select	NP_079469.2:n.532-38_532-32dup
NM_001142777.2:c.531+98_531+104dup	NP_001136249.1:n.531+98_531+104dup
NM_001142778.2:c.531+98_531+104dup	NP_001136250.1:n.531+98_531+104dup