Canonical Allele Identifier: CA937424084

Gene: HSD17B12

Linked Data

• dbSNP Id: rs1950018787
• gnomAD v3: 11-43706694-G-GTGTGTGTGTA
• gnomAD v4: 11-43706694-G-GTGTGTGTGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.43706703_43706704insATGTGTGTGT , CM000673.2:g.43706703_43706704insATGTGTGTGT	GRCh38
NC_000011.9:g.43728253_43728254insATGTGTGTGT , CM000673.1:g.43728253_43728254insATGTGTGTGT	GRCh37
NC_000011.8:g.43684829_43684830insATGTGTGTGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278353.10:c.160+25716_160+25717insATGTGTGTGT MANE Select	ENSP00000278353.4:n.160+25716_160+25717insATGTGTGTGT
ENST00000527433.6:c.123+25899_123+25900insATGTGTGTGT	ENSP00000490749.1:n.123+25899_123+25900insATGTGTGTGT
ENST00000636007.1:c.160+25716_160+25717insATGTGTGTGT	ENSP00000490822.1:n.160+25716_160+25717insATGTGTGTGT
ENST00000636722.1:c.*20+25520_*20+25521insATGTGTGTGT	ENSP00000490003.1:n.*20+25520_*20+25521insATGTGTGTGT
ENST00000637401.1:c.160+25716_160+25717insATGTGTGTGT	ENSP00000490421.1:n.160+25716_160+25717insATGTGTGTGT
ENST00000638034.1:c.64+25346_64+25347insATGTGTGTGT	ENSP00000490701.1:n.64+25346_64+25347insATGTGTGTGT
ENST00000278353.8:c.160+25716_160+25717insATGTGTGTGT	ENSP00000278353.4:n.160+25716_160+25717insATGTGTGTGT
ENST00000395700.4:c.160+25716_160+25717insATGTGTGTGT	ENSP00000379052.4:n.160+25716_160+25717insATGTGTGTGT
ENST00000527433.5:n.125+25899_125+25900insATGTGTGTGT
ENST00000529261.5:n.377+33564_377+33565insATGTGTGTGT
ENST00000531185.5:c.160+25716_160+25717insATGTGTGTGT	ENSP00000436582.1:n.160+25716_160+25717insATGTGTGTGT
ENST00000532864.5:n.282-44208_282-44207insATGTGTGTGT
NM_016142.2:c.160+25716_160+25717insATGTGTGTGT	NP_057226.1:n.160+25716_160+25717insATGTGTGTGT
XM_011520156.1:c.-63+25520_-63+25521insATGTGTGTGT	XP_011518458.1:n.-63+25520_-63+25521insATGTGTGTGT
XM_017017881.1:c.64+25346_64+25347insATGTGTGTGT	XP_016873370.1:n.64+25346_64+25347insATGTGTGTGT
XM_024448571.1:c.-62-44208_-62-44207insATGTGTGTGT	XP_024304339.1:n.-62-44208_-62-44207insATGTGTGTGT
XM_024448572.1:c.-62-44208_-62-44207insATGTGTGTGT	XP_024304340.1:n.-62-44208_-62-44207insATGTGTGTGT
XM_024448573.1:c.-62-44208_-62-44207insATGTGTGTGT	XP_024304341.1:n.-62-44208_-62-44207insATGTGTGTGT
NM_016142.3:c.160+25716_160+25717insATGTGTGTGT MANE Select	NP_057226.1:n.160+25716_160+25717insATGTGTGTGT