Canonical Allele Identifier: CA2695223284
Gene: HSD3B7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30987978del , CM000678.2:g.30987978del GRCh38
NC_000016.9:g.30999299del , CM000678.1:g.30999299del GRCh37
NC_000016.8:g.30906800del NCBI36
NG_012346.1:g.7781del
NG_041829.1:g.27532del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297679.10:c.905del MANE Select ENSP00000297679.5:p.Asn302MetfsTer18
ENST00000262520.10:c.*151del ENSP00000262520.6:n.*151del
ENST00000297679.9:c.905del ENSP00000297679.5:p.Asn302MetfsTer18
NM_001142777.1:c.*151del NP_001136249.1:n.*151del
NM_001142778.1:c.*151del NP_001136250.1:n.*151del
NM_025193.3:c.905del NP_079469.2:p.Asn302MetfsTer18
XM_005255601.3:c.905del XP_005255658.2:p.Asn302MetfsTer18
XM_011545960.1:c.905del XP_011544262.1:p.Asn302MetfsTer18
XM_011545961.1:c.905del XP_011544263.1:p.Asn302MetfsTer18
XM_011545960.2:c.905del XP_011544262.1:p.Asn302MetfsTer18
XM_011545962.2:c.*151del XP_011544264.1:n.*151del
XM_017023732.1:c.*151del XP_016879221.1:n.*151del
NM_025193.4:c.905del MANE Select NP_079469.2:p.Asn302MetfsTer18
NM_001142777.2:c.*151del NP_001136249.1:n.*151del
NM_001142778.2:c.*151del NP_001136250.1:n.*151del