Canonical Allele Identifier: CA8017997
Gene: HSD3B7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30986606_30986633del , CM000678.2:g.30986606_30986633del GRCh38
NC_000016.9:g.30997927_30997954del , CM000678.1:g.30997927_30997954del GRCh37
NC_000016.8:g.30905428_30905455del NCBI36
NG_012346.1:g.6409_6436del
NG_052948.1:g.34313_34340del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297679.10:c.433_460del MANE Select ENSP00000297679.5:p.Gly145CysfsTer?
ENST00000262520.10:c.433_460del ENSP00000262520.6:p.Gly145CysfsTer?
ENST00000297679.9:c.433_460del ENSP00000297679.5:p.Gly145CysfsTer?
ENST00000562932.5:c.556_583del ENSP00000459852.1:p.Gly186CysfsTer?
ENST00000574447.1:c.433_460del ENSP00000459689.1:p.Gly145CysfsTer?
NM_001142777.1:c.433_460del NP_001136249.1:p.Gly145CysfsTer?
NM_001142778.1:c.433_460del NP_001136250.1:p.Gly145CysfsTer?
NM_025193.3:c.433_460del NP_079469.2:p.Gly145CysfsTer?
XM_005255601.3:c.433_460del XP_005255658.2:p.Gly145CysfsTer?
XM_011545960.1:c.433_460del XP_011544262.1:p.Gly145CysfsTer?
XM_011545961.1:c.433_460del XP_011544263.1:p.Gly145CysfsTer?
XM_011545962.1:c.433_460del XP_011544264.1:p.Gly145CysfsTer?
XM_011545960.2:c.433_460del XP_011544262.1:p.Gly145CysfsTer?
XM_011545962.2:c.433_460del XP_011544264.1:p.Gly145CysfsTer?
XM_017023732.1:c.433_460del XP_016879221.1:p.Gly145CysfsTer?
NM_025193.4:c.433_460del MANE Select NP_079469.2:p.Gly145CysfsTer?
NM_001142777.2:c.433_460del NP_001136249.1:p.Gly145CysfsTer?
NM_001142778.2:c.433_460del NP_001136250.1:p.Gly145CysfsTer?