Canonical Allele Identifier: CA1967709916
Gene: HSD17B12 HGNC NCBI

Linked Data

dbSNP Id: rs1950017877

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.43706664_43706667del , CM000673.2:g.43706664_43706667del GRCh38
NC_000011.9:g.43728214_43728217del , CM000673.1:g.43728214_43728217del GRCh37
NC_000011.8:g.43684790_43684793del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000278353.10:c.160+25677_160+25680del MANE Select ENSP00000278353.4:n.160+25677_160+25680del
ENST00000527433.6:c.123+25860_123+25863del ENSP00000490749.1:n.123+25860_123+25863del
ENST00000636007.1:c.160+25677_160+25680del ENSP00000490822.1:n.160+25677_160+25680del
ENST00000636722.1:c.*20+25481_*20+25484del ENSP00000490003.1:n.*20+25481_*20+25484del
ENST00000637401.1:c.160+25677_160+25680del ENSP00000490421.1:n.160+25677_160+25680del
ENST00000638034.1:c.64+25307_64+25310del ENSP00000490701.1:n.64+25307_64+25310del
ENST00000278353.8:c.160+25677_160+25680del ENSP00000278353.4:n.160+25677_160+25680del
ENST00000395700.4:c.160+25677_160+25680del ENSP00000379052.4:n.160+25677_160+25680del
ENST00000527433.5:n.125+25860_125+25863del
ENST00000529261.5:n.377+33525_377+33528del
ENST00000531185.5:c.160+25677_160+25680del ENSP00000436582.1:n.160+25677_160+25680del
ENST00000532864.5:n.282-44247_282-44244del
NM_016142.2:c.160+25677_160+25680del NP_057226.1:n.160+25677_160+25680del
XM_011520156.1:c.-63+25481_-63+25484del XP_011518458.1:n.-63+25481_-63+25484del
XM_017017881.1:c.64+25307_64+25310del XP_016873370.1:n.64+25307_64+25310del
XM_024448571.1:c.-62-44247_-62-44244del XP_024304339.1:n.-62-44247_-62-44244del
XM_024448572.1:c.-62-44247_-62-44244del XP_024304340.1:n.-62-44247_-62-44244del
XM_024448573.1:c.-62-44247_-62-44244del XP_024304341.1:n.-62-44247_-62-44244del
NM_016142.3:c.160+25677_160+25680del MANE Select NP_057226.1:n.160+25677_160+25680del