Canonical Allele Identifier: CA719897694
Gene: HSD3B7 HGNC NCBI

Linked Data

dbSNP Id: rs1349522517

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30986512_30986513insCCTTCTA , CM000678.2:g.30986512_30986513insCCTTCTA GRCh38
NC_000016.9:g.30997833_30997834insCCTTCTA , CM000678.1:g.30997833_30997834insCCTTCTA GRCh37
NC_000016.8:g.30905334_30905335insCCTTCTA NCBI36
NG_012346.1:g.6315_6316insCCTTCTA
NG_052948.1:g.34219_34220insCCTTCTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000297679.10:c.412_413insCCTTCTA MANE Select ENSP00000297679.5:p.Lys138ThrfsTer3
ENST00000262520.10:c.412_413insCCTTCTA ENSP00000262520.6:p.Lys138ThrfsTer3
ENST00000297679.9:c.412_413insCCTTCTA ENSP00000297679.5:p.Lys138ThrfsTer3
ENST00000562932.5:c.535_536insCCTTCTA ENSP00000459852.1:p.Lys179ThrfsTer3
ENST00000574447.1:c.412_413insCCTTCTA ENSP00000459689.1:p.Lys138ThrfsTer3
NM_001142777.1:c.412_413insCCTTCTA NP_001136249.1:p.Lys138ThrfsTer3
NM_001142778.1:c.412_413insCCTTCTA NP_001136250.1:p.Lys138ThrfsTer3
NM_025193.3:c.412_413insCCTTCTA NP_079469.2:p.Lys138ThrfsTer3
XM_005255601.3:c.412_413insCCTTCTA XP_005255658.2:p.Lys138ThrfsTer3
XM_011545960.1:c.412_413insCCTTCTA XP_011544262.1:p.Lys138ThrfsTer3
XM_011545961.1:c.412_413insCCTTCTA XP_011544263.1:p.Lys138ThrfsTer3
XM_011545962.1:c.412_413insCCTTCTA XP_011544264.1:p.Lys138ThrfsTer3
XM_011545960.2:c.412_413insCCTTCTA XP_011544262.1:p.Lys138ThrfsTer3
XM_011545962.2:c.412_413insCCTTCTA XP_011544264.1:p.Lys138ThrfsTer3
XM_017023732.1:c.412_413insCCTTCTA XP_016879221.1:p.Lys138ThrfsTer3
NM_025193.4:c.412_413insCCTTCTA MANE Select NP_079469.2:p.Lys138ThrfsTer3
NM_001142777.2:c.412_413insCCTTCTA NP_001136249.1:p.Lys138ThrfsTer3
NM_001142778.2:c.412_413insCCTTCTA NP_001136250.1:p.Lys138ThrfsTer3