Canonical Allele Identifier: CA2575973576
Gene: HSD3B7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30986301_30986317del , CM000678.2:g.30986301_30986317del GRCh38
NC_000016.9:g.30997622_30997638del , CM000678.1:g.30997622_30997638del GRCh37
NC_000016.8:g.30905123_30905139del NCBI36
NG_012346.1:g.6104_6120del
NG_052948.1:g.34008_34024del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297679.10:c.322+97_323-106del MANE Select ENSP00000297679.5:n.322+97_323-106del
ENST00000262520.10:c.322+97_323-106del ENSP00000262520.6:n.322+97_323-106del
ENST00000297679.9:c.322+97_323-106del ENSP00000297679.5:n.322+97_323-106del
ENST00000562932.5:c.445+97_446-106del ENSP00000459852.1:n.445+97_446-106del
ENST00000574447.1:c.322+97_323-106del ENSP00000459689.1:n.322+97_323-106del
NM_001142777.1:c.322+97_323-106del NP_001136249.1:n.322+97_323-106del
NM_001142778.1:c.322+97_323-106del NP_001136250.1:n.322+97_323-106del
NM_025193.3:c.322+97_323-106del NP_079469.2:n.322+97_323-106del
XM_005255601.3:c.322+97_323-106del XP_005255658.2:n.322+97_323-106del
XM_011545960.1:c.322+97_323-106del XP_011544262.1:n.322+97_323-106del
XM_011545961.1:c.322+97_323-106del XP_011544263.1:n.322+97_323-106del
XM_011545962.1:c.322+97_323-106del XP_011544264.1:n.322+97_323-106del
XM_011545960.2:c.322+97_323-106del XP_011544262.1:n.322+97_323-106del
XM_011545962.2:c.322+97_323-106del XP_011544264.1:n.322+97_323-106del
XM_017023732.1:c.322+97_323-106del XP_016879221.1:n.322+97_323-106del
NM_025193.4:c.322+97_323-106del MANE Select NP_079469.2:n.322+97_323-106del
NM_001142777.2:c.322+97_323-106del NP_001136249.1:n.322+97_323-106del
NM_001142778.2:c.322+97_323-106del NP_001136250.1:n.322+97_323-106del