Canonical Allele Identifier: CA3000276063
Gene: HSD3B7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30986513_30986514insC , CM000678.2:g.30986513_30986514insC GRCh38
NC_000016.9:g.30997834_30997835insC , CM000678.1:g.30997834_30997835insC GRCh37
NC_000016.8:g.30905335_30905336insC NCBI36
NG_012346.1:g.6316_6317insC
NG_052948.1:g.34220_34221insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000297679.10:c.413_414insC MANE Select ENSP00000297679.5:p.Lys138AsnfsTer?
ENST00000262520.10:c.413_414insC ENSP00000262520.6:p.Lys138AsnfsTer?
ENST00000297679.9:c.413_414insC ENSP00000297679.5:p.Lys138AsnfsTer?
ENST00000562932.5:c.536_537insC ENSP00000459852.1:p.Lys179AsnfsTer?
ENST00000574447.1:c.413_414insC ENSP00000459689.1:p.Lys138AsnfsTer?
NM_001142777.1:c.413_414insC NP_001136249.1:p.Lys138AsnfsTer?
NM_001142778.1:c.413_414insC NP_001136250.1:p.Lys138AsnfsTer?
NM_025193.3:c.413_414insC NP_079469.2:p.Lys138AsnfsTer?
XM_005255601.3:c.413_414insC XP_005255658.2:p.Lys138AsnfsTer?
XM_011545960.1:c.413_414insC XP_011544262.1:p.Lys138AsnfsTer?
XM_011545961.1:c.413_414insC XP_011544263.1:p.Lys138AsnfsTer?
XM_011545962.1:c.413_414insC XP_011544264.1:p.Lys138AsnfsTer?
XM_011545960.2:c.413_414insC XP_011544262.1:p.Lys138AsnfsTer?
XM_011545962.2:c.413_414insC XP_011544264.1:p.Lys138AsnfsTer?
XM_017023732.1:c.413_414insC XP_016879221.1:p.Lys138AsnfsTer?
NM_025193.4:c.413_414insC MANE Select NP_079469.2:p.Lys138AsnfsTer?
NM_001142777.2:c.413_414insC NP_001136249.1:p.Lys138AsnfsTer?
NM_001142778.2:c.413_414insC NP_001136250.1:p.Lys138AsnfsTer?