Canonical Allele Identifier: CA937424049

Gene: HSD17B12

Linked Data

• dbSNP Id: rs147962977
• gnomAD v3: 11-43706689-GGTGTGTGTGTGT-G
• gnomAD v4: 11-43706689-GGTGTGTGTGTGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.43706710_43706721del , CM000673.2:g.43706710_43706721del	GRCh38
NC_000011.9:g.43728260_43728271del , CM000673.1:g.43728260_43728271del	GRCh37
NC_000011.8:g.43684836_43684847del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278353.10:c.160+25723_160+25734del MANE Select	ENSP00000278353.4:n.160+25723_160+25734del
ENST00000527433.6:c.123+25906_123+25917del	ENSP00000490749.1:n.123+25906_123+25917del
ENST00000636007.1:c.160+25723_160+25734del	ENSP00000490822.1:n.160+25723_160+25734del
ENST00000636722.1:c.*20+25527_*20+25538del	ENSP00000490003.1:n.*20+25527_*20+25538del
ENST00000637401.1:c.160+25723_160+25734del	ENSP00000490421.1:n.160+25723_160+25734del
ENST00000638034.1:c.64+25353_64+25364del	ENSP00000490701.1:n.64+25353_64+25364del
ENST00000278353.8:c.160+25723_160+25734del	ENSP00000278353.4:n.160+25723_160+25734del
ENST00000395700.4:c.160+25723_160+25734del	ENSP00000379052.4:n.160+25723_160+25734del
ENST00000527433.5:n.125+25906_125+25917del
ENST00000529261.5:n.377+33571_377+33582del
ENST00000531185.5:c.160+25723_160+25734del	ENSP00000436582.1:n.160+25723_160+25734del
ENST00000532864.5:n.282-44201_282-44190del
NM_016142.2:c.160+25723_160+25734del	NP_057226.1:n.160+25723_160+25734del
XM_011520156.1:c.-63+25527_-63+25538del	XP_011518458.1:n.-63+25527_-63+25538del
XM_017017881.1:c.64+25353_64+25364del	XP_016873370.1:n.64+25353_64+25364del
XM_024448571.1:c.-62-44201_-62-44190del	XP_024304339.1:n.-62-44201_-62-44190del
XM_024448572.1:c.-62-44201_-62-44190del	XP_024304340.1:n.-62-44201_-62-44190del
XM_024448573.1:c.-62-44201_-62-44190del	XP_024304341.1:n.-62-44201_-62-44190del
NM_016142.3:c.160+25723_160+25734del MANE Select	NP_057226.1:n.160+25723_160+25734del