Canonical Allele Identifier: CA2216821102
Gene: HSD3B7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30986148_30986162delinsTGGTAGACGTGTTTG , CM000678.2:g.30986148_30986162delinsTGGTAGACGTGTTTG GRCh38
NC_000016.9:g.30997469_30997483delinsTGGTAGACGTGTTTG , CM000678.1:g.30997469_30997483delinsTGGTAGACGTGTTTG GRCh37
NC_000016.8:g.30904970_30904984delinsTGGTAGACGTGTTTG NCBI36
NG_012346.1:g.5951_5965delinsTGGTAGACGTGTTTG
NG_052948.1:g.33855_33869delinsTGGTAGACGTGTTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000297679.10:c.266_280delinsTGGTAGACGTGTTTG MANE Select ENSP00000297679.5:p.Leu89=
ENST00000262520.10:c.266_280delinsTGGTAGACGTGTTTG ENSP00000262520.6:p.Leu89=
ENST00000297679.9:c.266_280delinsTGGTAGACGTGTTTG ENSP00000297679.5:p.Leu89=
ENST00000562932.5:c.389_403delinsTGGTAGACGTGTTTG ENSP00000459852.1:p.Leu130=
ENST00000574447.1:c.266_280delinsTGGTAGACGTGTTTG ENSP00000459689.1:p.Leu89=
NM_001142777.1:c.266_280delinsTGGTAGACGTGTTTG NP_001136249.1:p.Leu89=
NM_001142778.1:c.266_280delinsTGGTAGACGTGTTTG NP_001136250.1:p.Leu89=
NM_025193.3:c.266_280delinsTGGTAGACGTGTTTG NP_079469.2:p.Leu89=
XM_005255601.3:c.266_280delinsTGGTAGACGTGTTTG XP_005255658.2:p.Leu89=
XM_011545960.1:c.266_280delinsTGGTAGACGTGTTTG XP_011544262.1:p.Leu89=
XM_011545961.1:c.266_280delinsTGGTAGACGTGTTTG XP_011544263.1:p.Leu89=
XM_011545962.1:c.266_280delinsTGGTAGACGTGTTTG XP_011544264.1:p.Leu89=
XM_011545960.2:c.266_280delinsTGGTAGACGTGTTTG XP_011544262.1:p.Leu89=
XM_011545962.2:c.266_280delinsTGGTAGACGTGTTTG XP_011544264.1:p.Leu89=
XM_017023732.1:c.266_280delinsTGGTAGACGTGTTTG XP_016879221.1:p.Leu89=
NM_025193.4:c.266_280delinsTGGTAGACGTGTTTG MANE Select NP_079469.2:p.Leu89=
NM_001142777.2:c.266_280delinsTGGTAGACGTGTTTG NP_001136249.1:p.Leu89=
NM_001142778.2:c.266_280delinsTGGTAGACGTGTTTG NP_001136250.1:p.Leu89=