Canonical Allele Identifier: CA2216822824
Gene: HSD3B7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30986845_30986846delinsTG , CM000678.2:g.30986845_30986846delinsTG GRCh38
NC_000016.9:g.30998166_30998167delinsTG , CM000678.1:g.30998166_30998167delinsTG GRCh37
NC_000016.8:g.30905667_30905668delinsTG NCBI36
NG_012346.1:g.6648_6649delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000297679.10:c.537_538delinsTG MANE Select ENSP00000297679.5:p.Arg179=
ENST00000262520.10:c.531+141_531+142delinsTG ENSP00000262520.6:n.531+141_531+142delinsTG
ENST00000297679.9:c.537_538delinsTG ENSP00000297679.5:p.Arg179=
NM_001142777.1:c.531+141_531+142delinsTG NP_001136249.1:n.531+141_531+142delinsTG
NM_001142778.1:c.531+141_531+142delinsTG NP_001136250.1:n.531+141_531+142delinsTG
NM_025193.3:c.537_538delinsTG NP_079469.2:p.Arg179=
XM_005255601.3:c.537_538delinsTG XP_005255658.2:p.Arg179=
XM_011545960.1:c.537_538delinsTG XP_011544262.1:p.Arg179=
XM_011545961.1:c.537_538delinsTG XP_011544263.1:p.Arg179=
XM_011545962.1:c.531+141_531+142delinsTG XP_011544264.1:n.531+141_531+142delinsTG
XM_011545960.2:c.537_538delinsTG XP_011544262.1:p.Arg179=
XM_011545962.2:c.531+141_531+142delinsTG XP_011544264.1:n.531+141_531+142delinsTG
XM_017023732.1:c.531+141_531+142delinsTG XP_016879221.1:n.531+141_531+142delinsTG
NM_025193.4:c.537_538delinsTG MANE Select NP_079469.2:p.Arg179=
NM_001142777.2:c.531+141_531+142delinsTG NP_001136249.1:n.531+141_531+142delinsTG
NM_001142778.2:c.531+141_531+142delinsTG NP_001136250.1:n.531+141_531+142delinsTG