Canonical Allele Identifier: CA1967710395
Gene: HSD17B12 HGNC NCBI

Linked Data

dbSNP Id: rs1950020740

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.43706809_43706822del , CM000673.2:g.43706809_43706822del GRCh38
NC_000011.9:g.43728359_43728372del , CM000673.1:g.43728359_43728372del GRCh37
NC_000011.8:g.43684935_43684948del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000278353.10:c.160+25822_160+25835del MANE Select ENSP00000278353.4:n.160+25822_160+25835del
ENST00000527433.6:c.123+26005_123+26018del ENSP00000490749.1:n.123+26005_123+26018del
ENST00000636007.1:c.160+25822_160+25835del ENSP00000490822.1:n.160+25822_160+25835del
ENST00000636722.1:c.*20+25626_*20+25639del ENSP00000490003.1:n.*20+25626_*20+25639del
ENST00000637401.1:c.160+25822_160+25835del ENSP00000490421.1:n.160+25822_160+25835del
ENST00000638034.1:c.64+25452_64+25465del ENSP00000490701.1:n.64+25452_64+25465del
ENST00000278353.8:c.160+25822_160+25835del ENSP00000278353.4:n.160+25822_160+25835del
ENST00000395700.4:c.160+25822_160+25835del ENSP00000379052.4:n.160+25822_160+25835del
ENST00000527433.5:n.125+26005_125+26018del
ENST00000529261.5:n.377+33670_377+33683del
ENST00000531185.5:c.160+25822_160+25835del ENSP00000436582.1:n.160+25822_160+25835del
ENST00000532864.5:n.282-44102_282-44089del
NM_016142.2:c.160+25822_160+25835del NP_057226.1:n.160+25822_160+25835del
XM_011520156.1:c.-63+25626_-63+25639del XP_011518458.1:n.-63+25626_-63+25639del
XM_017017881.1:c.64+25452_64+25465del XP_016873370.1:n.64+25452_64+25465del
XM_024448571.1:c.-62-44102_-62-44089del XP_024304339.1:n.-62-44102_-62-44089del
XM_024448572.1:c.-62-44102_-62-44089del XP_024304340.1:n.-62-44102_-62-44089del
XM_024448573.1:c.-62-44102_-62-44089del XP_024304341.1:n.-62-44102_-62-44089del
NM_016142.3:c.160+25822_160+25835del MANE Select NP_057226.1:n.160+25822_160+25835del