Canonical Allele Identifier: CA1967710182

Gene: HSD17B12

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.43706723_43706724delinsGT , CM000673.2:g.43706723_43706724delinsGT	GRCh38
NC_000011.9:g.43728273_43728274delinsGT , CM000673.1:g.43728273_43728274delinsGT	GRCh37
NC_000011.8:g.43684849_43684850delinsGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278353.10:c.160+25736_160+25737delinsGT MANE Select	ENSP00000278353.4:n.160+25736_160+25737delinsGT
ENST00000527433.6:c.123+25919_123+25920delinsGT	ENSP00000490749.1:n.123+25919_123+25920delinsGT
ENST00000636007.1:c.160+25736_160+25737delinsGT	ENSP00000490822.1:n.160+25736_160+25737delinsGT
ENST00000636722.1:c.*20+25540_*20+25541delinsGT	ENSP00000490003.1:n.*20+25540_*20+25541delinsGT
ENST00000637401.1:c.160+25736_160+25737delinsGT	ENSP00000490421.1:n.160+25736_160+25737delinsGT
ENST00000638034.1:c.64+25366_64+25367delinsGT	ENSP00000490701.1:n.64+25366_64+25367delinsGT
ENST00000278353.8:c.160+25736_160+25737delinsGT	ENSP00000278353.4:n.160+25736_160+25737delinsGT
ENST00000395700.4:c.160+25736_160+25737delinsGT	ENSP00000379052.4:n.160+25736_160+25737delinsGT
ENST00000527433.5:n.125+25919_125+25920delinsGT
ENST00000529261.5:n.377+33584_377+33585delinsGT
ENST00000531185.5:c.160+25736_160+25737delinsGT	ENSP00000436582.1:n.160+25736_160+25737delinsGT
ENST00000532864.5:n.282-44188_282-44187delinsGT
NM_016142.2:c.160+25736_160+25737delinsGT	NP_057226.1:n.160+25736_160+25737delinsGT
XM_011520156.1:c.-63+25540_-63+25541delinsGT	XP_011518458.1:n.-63+25540_-63+25541delinsGT
XM_017017881.1:c.64+25366_64+25367delinsGT	XP_016873370.1:n.64+25366_64+25367delinsGT
XM_024448571.1:c.-62-44188_-62-44187delinsGT	XP_024304339.1:n.-62-44188_-62-44187delinsGT
XM_024448572.1:c.-62-44188_-62-44187delinsGT	XP_024304340.1:n.-62-44188_-62-44187delinsGT
XM_024448573.1:c.-62-44188_-62-44187delinsGT	XP_024304341.1:n.-62-44188_-62-44187delinsGT
NM_016142.3:c.160+25736_160+25737delinsGT MANE Select	NP_057226.1:n.160+25736_160+25737delinsGT