Canonical Allele Identifier: CA2575973588
Gene: HSD3B7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30986473del , CM000678.2:g.30986473del GRCh38
NC_000016.9:g.30997794del , CM000678.1:g.30997794del GRCh37
NC_000016.8:g.30905295del NCBI36
NG_012346.1:g.6276del
NG_052948.1:g.34180del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297679.10:c.373del MANE Select ENSP00000297679.5:p.Val125SerfsTer?
ENST00000262520.10:c.373del ENSP00000262520.6:p.Val125SerfsTer?
ENST00000297679.9:c.373del ENSP00000297679.5:p.Val125SerfsTer?
ENST00000562932.5:c.496del ENSP00000459852.1:p.Val166SerfsTer?
ENST00000574447.1:c.373del ENSP00000459689.1:p.Val125SerfsTer?
NM_001142777.1:c.373del NP_001136249.1:p.Val125SerfsTer?
NM_001142778.1:c.373del NP_001136250.1:p.Val125SerfsTer?
NM_025193.3:c.373del NP_079469.2:p.Val125SerfsTer?
XM_005255601.3:c.373del XP_005255658.2:p.Val125SerfsTer?
XM_011545960.1:c.373del XP_011544262.1:p.Val125SerfsTer?
XM_011545961.1:c.373del XP_011544263.1:p.Val125SerfsTer?
XM_011545962.1:c.373del XP_011544264.1:p.Val125SerfsTer?
XM_011545960.2:c.373del XP_011544262.1:p.Val125SerfsTer?
XM_011545962.2:c.373del XP_011544264.1:p.Val125SerfsTer?
XM_017023732.1:c.373del XP_016879221.1:p.Val125SerfsTer?
NM_025193.4:c.373del MANE Select NP_079469.2:p.Val125SerfsTer?
NM_001142777.2:c.373del NP_001136249.1:p.Val125SerfsTer?
NM_001142778.2:c.373del NP_001136250.1:p.Val125SerfsTer?