Canonical Allele Identifier: CA937424361

Gene: HSD17B12

Linked Data

• dbSNP Id: rs1950021324
• gnomAD v3: 11-43706872-GCAAGTA-G
• gnomAD v4: 11-43706872-GCAAGTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.43706877_43706882del , CM000673.2:g.43706877_43706882del	GRCh38
NC_000011.9:g.43728427_43728432del , CM000673.1:g.43728427_43728432del	GRCh37
NC_000011.8:g.43685003_43685008del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278353.10:c.160+25890_160+25895del MANE Select	ENSP00000278353.4:n.160+25890_160+25895del
ENST00000527433.6:c.123+26073_123+26078del	ENSP00000490749.1:n.123+26073_123+26078del
ENST00000636007.1:c.160+25890_160+25895del	ENSP00000490822.1:n.160+25890_160+25895del
ENST00000636722.1:c.*20+25694_*20+25699del	ENSP00000490003.1:n.*20+25694_*20+25699del
ENST00000637401.1:c.160+25890_160+25895del	ENSP00000490421.1:n.160+25890_160+25895del
ENST00000638034.1:c.64+25520_64+25525del	ENSP00000490701.1:n.64+25520_64+25525del
ENST00000278353.8:c.160+25890_160+25895del	ENSP00000278353.4:n.160+25890_160+25895del
ENST00000395700.4:c.160+25890_160+25895del	ENSP00000379052.4:n.160+25890_160+25895del
ENST00000527433.5:n.125+26073_125+26078del
ENST00000529261.5:n.377+33738_377+33743del
ENST00000531185.5:c.160+25890_160+25895del	ENSP00000436582.1:n.160+25890_160+25895del
ENST00000532864.5:n.282-44034_282-44029del
NM_016142.2:c.160+25890_160+25895del	NP_057226.1:n.160+25890_160+25895del
XM_011520156.1:c.-63+25694_-63+25699del	XP_011518458.1:n.-63+25694_-63+25699del
XM_017017881.1:c.64+25520_64+25525del	XP_016873370.1:n.64+25520_64+25525del
XM_024448571.1:c.-62-44034_-62-44029del	XP_024304339.1:n.-62-44034_-62-44029del
XM_024448572.1:c.-62-44034_-62-44029del	XP_024304340.1:n.-62-44034_-62-44029del
XM_024448573.1:c.-62-44034_-62-44029del	XP_024304341.1:n.-62-44034_-62-44029del
NM_016142.3:c.160+25890_160+25895del MANE Select	NP_057226.1:n.160+25890_160+25895del