Canonical Allele Identifier: CA676707398

Gene: HSD17B12

Linked Data

• dbSNP Id: rs1037280801
• gnomAD v3: 11-43706689-G-GGGGTGTGTGT
• gnomAD v4: 11-43706689-G-GGGGTGTGTGT
• MyVariant Identifiers: chr11:g.43728239_43728240insGGGTGTGTGT (hg19) ; chr11:g.43706689_43706690insGGGTGTGTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.43706690_43706691insGGTGTGTGTG , CM000673.2:g.43706690_43706691insGGTGTGTGTG	GRCh38
NC_000011.9:g.43728240_43728241insGGTGTGTGTG , CM000673.1:g.43728240_43728241insGGTGTGTGTG	GRCh37
NC_000011.8:g.43684816_43684817insGGTGTGTGTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278353.10:c.160+25703_160+25704insGGTGTGTGTG MANE Select	ENSP00000278353.4:n.160+25703_160+25704insGGTGTGTGTG
ENST00000527433.6:c.123+25886_123+25887insGGTGTGTGTG	ENSP00000490749.1:n.123+25886_123+25887insGGTGTGTGTG
ENST00000636007.1:c.160+25703_160+25704insGGTGTGTGTG	ENSP00000490822.1:n.160+25703_160+25704insGGTGTGTGTG
ENST00000636722.1:c.*20+25507_*20+25508insGGTGTGTGTG	ENSP00000490003.1:n.*20+25507_*20+25508insGGTGTGTGTG
ENST00000637401.1:c.160+25703_160+25704insGGTGTGTGTG	ENSP00000490421.1:n.160+25703_160+25704insGGTGTGTGTG
ENST00000638034.1:c.64+25333_64+25334insGGTGTGTGTG	ENSP00000490701.1:n.64+25333_64+25334insGGTGTGTGTG
ENST00000278353.8:c.160+25703_160+25704insGGTGTGTGTG	ENSP00000278353.4:n.160+25703_160+25704insGGTGTGTGTG
ENST00000395700.4:c.160+25703_160+25704insGGTGTGTGTG	ENSP00000379052.4:n.160+25703_160+25704insGGTGTGTGTG
ENST00000527433.5:n.125+25886_125+25887insGGTGTGTGTG
ENST00000529261.5:n.377+33551_377+33552insGGTGTGTGTG
ENST00000531185.5:c.160+25703_160+25704insGGTGTGTGTG	ENSP00000436582.1:n.160+25703_160+25704insGGTGTGTGTG
ENST00000532864.5:n.282-44221_282-44220insGGTGTGTGTG
NM_016142.2:c.160+25703_160+25704insGGTGTGTGTG	NP_057226.1:n.160+25703_160+25704insGGTGTGTGTG
XM_011520156.1:c.-63+25507_-63+25508insGGTGTGTGTG	XP_011518458.1:n.-63+25507_-63+25508insGGTGTGTGTG
XM_017017881.1:c.64+25333_64+25334insGGTGTGTGTG	XP_016873370.1:n.64+25333_64+25334insGGTGTGTGTG
XM_024448571.1:c.-62-44221_-62-44220insGGTGTGTGTG	XP_024304339.1:n.-62-44221_-62-44220insGGTGTGTGTG
XM_024448572.1:c.-62-44221_-62-44220insGGTGTGTGTG	XP_024304340.1:n.-62-44221_-62-44220insGGTGTGTGTG
XM_024448573.1:c.-62-44221_-62-44220insGGTGTGTGTG	XP_024304341.1:n.-62-44221_-62-44220insGGTGTGTGTG
NM_016142.3:c.160+25703_160+25704insGGTGTGTGTG MANE Select	NP_057226.1:n.160+25703_160+25704insGGTGTGTGTG