Canonical Allele Identifier: CA937424209

Gene: HSD17B12

Linked Data

• dbSNP Id: rs1204580097
• gnomAD v3: 11-43706724-T-TGTGTGTGTGTGTTGG
• gnomAD v4: 11-43706724-T-TGTGTGTGTGTGTTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.43706725_43706726insTGTGTGTGTGTTGGG , CM000673.2:g.43706725_43706726insTGTGTGTGTGTTGGG	GRCh38
NC_000011.9:g.43728275_43728276insTGTGTGTGTGTTGGG , CM000673.1:g.43728275_43728276insTGTGTGTGTGTTGGG	GRCh37
NC_000011.8:g.43684851_43684852insTGTGTGTGTGTTGGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278353.10:c.160+25738_160+25739insTGTGTGTGTGTTGGG MANE Select	ENSP00000278353.4:n.160+25738_160+25739insTGTGTGTGTGTTGGG
ENST00000527433.6:c.123+25921_123+25922insTGTGTGTGTGTTGGG	ENSP00000490749.1:n.123+25921_123+25922insTGTGTGTGTGTTGGG
ENST00000636007.1:c.160+25738_160+25739insTGTGTGTGTGTTGGG	ENSP00000490822.1:n.160+25738_160+25739insTGTGTGTGTGTTGGG
ENST00000636722.1:c.*20+25542_*20+25543insTGTGTGTGTGTTGGG	ENSP00000490003.1:n.*20+25542_*20+25543insTGTGTGTGTGTTGGG
ENST00000637401.1:c.160+25738_160+25739insTGTGTGTGTGTTGGG	ENSP00000490421.1:n.160+25738_160+25739insTGTGTGTGTGTTGGG
ENST00000638034.1:c.64+25368_64+25369insTGTGTGTGTGTTGGG	ENSP00000490701.1:n.64+25368_64+25369insTGTGTGTGTGTTGGG
ENST00000278353.8:c.160+25738_160+25739insTGTGTGTGTGTTGGG	ENSP00000278353.4:n.160+25738_160+25739insTGTGTGTGTGTTGGG
ENST00000395700.4:c.160+25738_160+25739insTGTGTGTGTGTTGGG	ENSP00000379052.4:n.160+25738_160+25739insTGTGTGTGTGTTGGG
ENST00000527433.5:n.125+25921_125+25922insTGTGTGTGTGTTGGG
ENST00000529261.5:n.377+33586_377+33587insTGTGTGTGTGTTGGG
ENST00000531185.5:c.160+25738_160+25739insTGTGTGTGTGTTGGG	ENSP00000436582.1:n.160+25738_160+25739insTGTGTGTGTGTTGGG
ENST00000532864.5:n.282-44186_282-44185insTGTGTGTGTGTTGGG
NM_016142.2:c.160+25738_160+25739insTGTGTGTGTGTTGGG	NP_057226.1:n.160+25738_160+25739insTGTGTGTGTGTTGGG
XM_011520156.1:c.-63+25542_-63+25543insTGTGTGTGTGTTGGG	XP_011518458.1:n.-63+25542_-63+25543insTGTGTGTGTGTTGGG
XM_017017881.1:c.64+25368_64+25369insTGTGTGTGTGTTGGG	XP_016873370.1:n.64+25368_64+25369insTGTGTGTGTGTTGGG
XM_024448571.1:c.-62-44186_-62-44185insTGTGTGTGTGTTGGG	XP_024304339.1:n.-62-44186_-62-44185insTGTGTGTGTGTTGGG
XM_024448572.1:c.-62-44186_-62-44185insTGTGTGTGTGTTGGG	XP_024304340.1:n.-62-44186_-62-44185insTGTGTGTGTGTTGGG
XM_024448573.1:c.-62-44186_-62-44185insTGTGTGTGTGTTGGG	XP_024304341.1:n.-62-44186_-62-44185insTGTGTGTGTGTTGGG
NM_016142.3:c.160+25738_160+25739insTGTGTGTGTGTTGGG MANE Select	NP_057226.1:n.160+25738_160+25739insTGTGTGTGTGTTGGG