Canonical Allele Identifier: CA676707344

Gene: HSD17B12

Linked Data

• dbSNP Id: rs147962977
• gnomAD v3: 11-43706689-G-GGTGTGTGTGTGTGTGT
• gnomAD v4: 11-43706689-G-GGTGTGTGTGTGTGTGT
• MyVariant Identifiers: chr11:g.43728239_43728240insGTGTGTGTGTGTGTGT (hg19) ; chr11:g.43706689_43706690insGTGTGTGTGTGTGTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.43706706_43706721dup , CM000673.2:g.43706706_43706721dup	GRCh38
NC_000011.9:g.43728256_43728271dup , CM000673.1:g.43728256_43728271dup	GRCh37
NC_000011.8:g.43684832_43684847dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278353.10:c.160+25719_160+25734dup MANE Select	ENSP00000278353.4:n.160+25719_160+25734dup
ENST00000527433.6:c.123+25902_123+25917dup	ENSP00000490749.1:n.123+25902_123+25917dup
ENST00000636007.1:c.160+25719_160+25734dup	ENSP00000490822.1:n.160+25719_160+25734dup
ENST00000636722.1:c.*20+25523_*20+25538dup	ENSP00000490003.1:n.*20+25523_*20+25538dup
ENST00000637401.1:c.160+25719_160+25734dup	ENSP00000490421.1:n.160+25719_160+25734dup
ENST00000638034.1:c.64+25349_64+25364dup	ENSP00000490701.1:n.64+25349_64+25364dup
ENST00000278353.8:c.160+25719_160+25734dup	ENSP00000278353.4:n.160+25719_160+25734dup
ENST00000395700.4:c.160+25719_160+25734dup	ENSP00000379052.4:n.160+25719_160+25734dup
ENST00000527433.5:n.125+25902_125+25917dup
ENST00000529261.5:n.377+33567_377+33582dup
ENST00000531185.5:c.160+25719_160+25734dup	ENSP00000436582.1:n.160+25719_160+25734dup
ENST00000532864.5:n.282-44205_282-44190dup
NM_016142.2:c.160+25719_160+25734dup	NP_057226.1:n.160+25719_160+25734dup
XM_011520156.1:c.-63+25523_-63+25538dup	XP_011518458.1:n.-63+25523_-63+25538dup
XM_017017881.1:c.64+25349_64+25364dup	XP_016873370.1:n.64+25349_64+25364dup
XM_024448571.1:c.-62-44205_-62-44190dup	XP_024304339.1:n.-62-44205_-62-44190dup
XM_024448572.1:c.-62-44205_-62-44190dup	XP_024304340.1:n.-62-44205_-62-44190dup
XM_024448573.1:c.-62-44205_-62-44190dup	XP_024304341.1:n.-62-44205_-62-44190dup
NM_016142.3:c.160+25719_160+25734dup MANE Select	NP_057226.1:n.160+25719_160+25734dup