Canonical Allele Identifier: CA645515184

Gene: HADHB

Linked Data

• COSMIC: COSM1253945

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26279202_26279227del , CM000664.2:g.26279202_26279227del	GRCh38
NC_000002.11:g.26502070_26502095del , CM000664.1:g.26502070_26502095del	GRCh37
NC_000002.10:g.26355574_26355599del	NCBI36
NG_007294.1:g.39250_39275del

Transcript Alleles

HGVS	Amino-acid change
ENST00000317799.10:c.698_723del MANE Select	ENSP00000325136.5:p.Ala233GlyfsTer2
ENST00000317799.9:c.698_723del	ENSP00000325136.5:p.Ala233GlyfsTer2
ENST00000405867.7:c.443-792_443-767del	ENSP00000385411.3:n.443-792_443-767del
ENST00000494615.1:n.1645_1670del
ENST00000537713.5:c.653_678del	ENSP00000444295.1:p.Ala218GlyfsTer2
ENST00000545822.2:c.632_657del	ENSP00000442665.1:p.Ala211GlyfsTer2
NM_000183.2:c.698_723del	NP_000174.1:p.Ala233GlyfsTer2
NM_001281512.1:c.653_678del	NP_001268441.1:p.Ala218GlyfsTer2
NM_001281513.1:c.632_657del	NP_001268442.1:p.Ala211GlyfsTer2
XM_011532803.1:c.698_723del	XP_011531105.1:p.Ala233GlyfsTer2
XM_011532804.1:c.632_657del	XP_011531106.1:p.Ala211GlyfsTer2
XM_024452830.1:c.668_693del	XP_024308598.1:p.Ala223GlyfsTer2
XM_024452831.1:c.632_657del	XP_024308599.1:p.Ala211GlyfsTer2
NM_000183.3:c.698_723del MANE Select	NP_000174.1:p.Ala233GlyfsTer2
NM_001281513.2:c.632_657del	NP_001268442.1:p.Ala211GlyfsTer2
NM_001281512.2:c.653_678del	NP_001268441.1:p.Ala218GlyfsTer2