Canonical Allele Identifier: CA2216822502
Gene: HSD3B7 HGNC NCBI

Linked Data

dbSNP Id: rs2056485809

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30986721del , CM000678.2:g.30986721del GRCh38
NC_000016.9:g.30998042del , CM000678.1:g.30998042del GRCh37
NC_000016.8:g.30905543del NCBI36
NG_012346.1:g.6524del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297679.10:c.531+17del MANE Select ENSP00000297679.5:n.531+17del
ENST00000262520.10:c.531+17del ENSP00000262520.6:n.531+17del
ENST00000297679.9:c.531+17del ENSP00000297679.5:n.531+17del
NM_001142777.1:c.531+17del NP_001136249.1:n.531+17del
NM_001142778.1:c.531+17del NP_001136250.1:n.531+17del
NM_025193.3:c.531+17del NP_079469.2:n.531+17del
XM_005255601.3:c.531+17del XP_005255658.2:n.531+17del
XM_011545960.1:c.531+17del XP_011544262.1:n.531+17del
XM_011545961.1:c.531+17del XP_011544263.1:n.531+17del
XM_011545962.1:c.531+17del XP_011544264.1:n.531+17del
XM_011545960.2:c.531+17del XP_011544262.1:n.531+17del
XM_011545962.2:c.531+17del XP_011544264.1:n.531+17del
XM_017023732.1:c.531+17del XP_016879221.1:n.531+17del
NM_025193.4:c.531+17del MANE Select NP_079469.2:n.531+17del
NM_001142777.2:c.531+17del NP_001136249.1:n.531+17del
NM_001142778.2:c.531+17del NP_001136250.1:n.531+17del