Canonical Allele Identifier: CA1028606118

Gene: HADHB

Linked Data

• dbSNP Id: rs1672683307

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26279198_26279199dup , CM000664.2:g.26279198_26279199dup	GRCh38
NC_000002.11:g.26502066_26502067dup , CM000664.1:g.26502066_26502067dup	GRCh37
NC_000002.10:g.26355570_26355571dup	NCBI36
NG_007294.1:g.39246_39247dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000317799.10:c.694_695dup MANE Select	ENSP00000325136.5:p.Ala233LeufsTer20
ENST00000317799.9:c.694_695dup	ENSP00000325136.5:p.Ala233LeufsTer20
ENST00000405867.7:c.443-796_443-795dup	ENSP00000385411.3:n.443-796_443-795dup
ENST00000494615.1:n.1641_1642dup
ENST00000537713.5:c.649_650dup	ENSP00000444295.1:p.Ala218LeufsTer20
ENST00000545822.2:c.628_629dup	ENSP00000442665.1:p.Ala211LeufsTer20
NM_000183.2:c.694_695dup	NP_000174.1:p.Ala233LeufsTer20
NM_001281512.1:c.649_650dup	NP_001268441.1:p.Ala218LeufsTer20
NM_001281513.1:c.628_629dup	NP_001268442.1:p.Ala211LeufsTer20
XM_011532803.1:c.694_695dup	XP_011531105.1:p.Ala233LeufsTer20
XM_011532804.1:c.628_629dup	XP_011531106.1:p.Ala211LeufsTer20
XM_024452830.1:c.664_665dup	XP_024308598.1:p.Ala223LeufsTer20
XM_024452831.1:c.628_629dup	XP_024308599.1:p.Ala211LeufsTer20
NM_000183.3:c.694_695dup MANE Select	NP_000174.1:p.Ala233LeufsTer20
NM_001281513.2:c.628_629dup	NP_001268442.1:p.Ala211LeufsTer20
NM_001281512.2:c.649_650dup	NP_001268441.1:p.Ala218LeufsTer20