Canonical Allele Identifier: CA2576697443

Gene: HADHB

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000317799.10:c.694del MANE Select	ENSP00000325136.5:p.Ala232LeufsTer20
ENST00000317799.9:c.694del	ENSP00000325136.5:p.Ala232LeufsTer20
ENST00000405867.7:c.443-796del	ENSP00000385411.3:n.443-796del
ENST00000494615.1:n.1641del
ENST00000537713.5:c.649del	ENSP00000444295.1:p.Ala217LeufsTer20
ENST00000545822.2:c.628del	ENSP00000442665.1:p.Ala210LeufsTer20
NM_000183.2:c.694del	NP_000174.1:p.Ala232LeufsTer20
NM_001281512.1:c.649del	NP_001268441.1:p.Ala217LeufsTer20
NM_001281513.1:c.628del	NP_001268442.1:p.Ala210LeufsTer20
XM_011532803.1:c.694del	XP_011531105.1:p.Ala232LeufsTer20
XM_011532804.1:c.628del	XP_011531106.1:p.Ala210LeufsTer20
XM_024452830.1:c.664del	XP_024308598.1:p.Ala222LeufsTer20
XM_024452831.1:c.628del	XP_024308599.1:p.Ala210LeufsTer20
NM_000183.3:c.694del MANE Select	NP_000174.1:p.Ala232LeufsTer20
NM_001281513.2:c.628del	NP_001268442.1:p.Ala210LeufsTer20
NM_001281512.2:c.649del	NP_001268441.1:p.Ala217LeufsTer20