Canonical Allele Identifier: CA1967710124
Gene: HSD17B12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.43706720_43706721delinsGT , CM000673.2:g.43706720_43706721delinsGT GRCh38
NC_000011.9:g.43728270_43728271delinsGT , CM000673.1:g.43728270_43728271delinsGT GRCh37
NC_000011.8:g.43684846_43684847delinsGT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000278353.10:c.160+25733_160+25734delinsGT MANE Select ENSP00000278353.4:n.160+25733_160+25734delinsGT
ENST00000527433.6:c.123+25916_123+25917delinsGT ENSP00000490749.1:n.123+25916_123+25917delinsGT
ENST00000636007.1:c.160+25733_160+25734delinsGT ENSP00000490822.1:n.160+25733_160+25734delinsGT
ENST00000636722.1:c.*20+25537_*20+25538delinsGT ENSP00000490003.1:n.*20+25537_*20+25538delinsGT
ENST00000637401.1:c.160+25733_160+25734delinsGT ENSP00000490421.1:n.160+25733_160+25734delinsGT
ENST00000638034.1:c.64+25363_64+25364delinsGT ENSP00000490701.1:n.64+25363_64+25364delinsGT
ENST00000278353.8:c.160+25733_160+25734delinsGT ENSP00000278353.4:n.160+25733_160+25734delinsGT
ENST00000395700.4:c.160+25733_160+25734delinsGT ENSP00000379052.4:n.160+25733_160+25734delinsGT
ENST00000527433.5:n.125+25916_125+25917delinsGT
ENST00000529261.5:n.377+33581_377+33582delinsGT
ENST00000531185.5:c.160+25733_160+25734delinsGT ENSP00000436582.1:n.160+25733_160+25734delinsGT
ENST00000532864.5:n.282-44191_282-44190delinsGT
NM_016142.2:c.160+25733_160+25734delinsGT NP_057226.1:n.160+25733_160+25734delinsGT
XM_011520156.1:c.-63+25537_-63+25538delinsGT XP_011518458.1:n.-63+25537_-63+25538delinsGT
XM_017017881.1:c.64+25363_64+25364delinsGT XP_016873370.1:n.64+25363_64+25364delinsGT
XM_024448571.1:c.-62-44191_-62-44190delinsGT XP_024304339.1:n.-62-44191_-62-44190delinsGT
XM_024448572.1:c.-62-44191_-62-44190delinsGT XP_024304340.1:n.-62-44191_-62-44190delinsGT
XM_024448573.1:c.-62-44191_-62-44190delinsGT XP_024304341.1:n.-62-44191_-62-44190delinsGT
NM_016142.3:c.160+25733_160+25734delinsGT MANE Select NP_057226.1:n.160+25733_160+25734delinsGT