Canonical Allele Identifier: CA2791236249

Gene: HSD17B12

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.43706712_43706713insCGTG , CM000673.2:g.43706712_43706713insCGTG	GRCh38
NC_000011.9:g.43728262_43728263insCGTG , CM000673.1:g.43728262_43728263insCGTG	GRCh37
NC_000011.8:g.43684838_43684839insCGTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278353.10:c.160+25725_160+25726insCGTG MANE Select	ENSP00000278353.4:n.160+25725_160+25726insCGTG
ENST00000527433.6:c.123+25908_123+25909insCGTG	ENSP00000490749.1:n.123+25908_123+25909insCGTG
ENST00000636007.1:c.160+25725_160+25726insCGTG	ENSP00000490822.1:n.160+25725_160+25726insCGTG
ENST00000636722.1:c.*20+25529_*20+25530insCGTG	ENSP00000490003.1:n.*20+25529_*20+25530insCGTG
ENST00000637401.1:c.160+25725_160+25726insCGTG	ENSP00000490421.1:n.160+25725_160+25726insCGTG
ENST00000638034.1:c.64+25355_64+25356insCGTG	ENSP00000490701.1:n.64+25355_64+25356insCGTG
ENST00000278353.8:c.160+25725_160+25726insCGTG	ENSP00000278353.4:n.160+25725_160+25726insCGTG
ENST00000395700.4:c.160+25725_160+25726insCGTG	ENSP00000379052.4:n.160+25725_160+25726insCGTG
ENST00000527433.5:n.125+25908_125+25909insCGTG
ENST00000529261.5:n.377+33573_377+33574insCGTG
ENST00000531185.5:c.160+25725_160+25726insCGTG	ENSP00000436582.1:n.160+25725_160+25726insCGTG
ENST00000532864.5:n.282-44199_282-44198insCGTG
NM_016142.2:c.160+25725_160+25726insCGTG	NP_057226.1:n.160+25725_160+25726insCGTG
XM_011520156.1:c.-63+25529_-63+25530insCGTG	XP_011518458.1:n.-63+25529_-63+25530insCGTG
XM_017017881.1:c.64+25355_64+25356insCGTG	XP_016873370.1:n.64+25355_64+25356insCGTG
XM_024448571.1:c.-62-44199_-62-44198insCGTG	XP_024304339.1:n.-62-44199_-62-44198insCGTG
XM_024448572.1:c.-62-44199_-62-44198insCGTG	XP_024304340.1:n.-62-44199_-62-44198insCGTG
XM_024448573.1:c.-62-44199_-62-44198insCGTG	XP_024304341.1:n.-62-44199_-62-44198insCGTG
NM_016142.3:c.160+25725_160+25726insCGTG MANE Select	NP_057226.1:n.160+25725_160+25726insCGTG