Canonical Allele Identifier: CA236403
Gene: HSD3B7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30987004del , CM000678.2:g.30987004del GRCh38
NC_000016.9:g.30998325del , CM000678.1:g.30998325del GRCh37
NC_000016.8:g.30905826del NCBI36
NG_012346.1:g.6807del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297679.10:c.694+2del MANE Select ENSP00000297679.5:n.694+2del
ENST00000262520.10:c.531+300del ENSP00000262520.6:n.531+300del
ENST00000297679.9:c.694+2del ENSP00000297679.5:n.694+2del
NM_001142777.1:c.531+300del NP_001136249.1:n.531+300del
NM_001142778.1:c.531+300del NP_001136250.1:n.531+300del
NM_025193.3:c.694+2del NP_079469.2:n.694+2del
XM_005255601.3:c.694+2del XP_005255658.2:n.694+2del
XM_011545960.1:c.694+2del XP_011544262.1:n.694+2del
XM_011545961.1:c.694+2del XP_011544263.1:n.694+2del
XM_011545962.1:c.531+300del XP_011544264.1:n.531+300del
XM_011545960.2:c.694+2del XP_011544262.1:n.694+2del
XM_011545962.2:c.531+300del XP_011544264.1:n.531+300del
XM_017023732.1:c.531+300del XP_016879221.1:n.531+300del
NM_025193.4:c.694+2del MANE Select NP_079469.2:n.694+2del
NM_001142777.2:c.531+300del NP_001136249.1:n.531+300del
NM_001142778.2:c.531+300del NP_001136250.1:n.531+300del
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