Canonical Allele Identifier: CA658795174

Gene: HADHB

Linked Data

• ClinVar Variation Id: 1695419
• ClinVar RCV Id: RCV002264901
• dbSNP Id: rs2147825515

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26279197del , CM000664.2:g.26279197del	GRCh38
NC_000002.11:g.26502065del , CM000664.1:g.26502065del	GRCh37
NC_000002.10:g.26355569del	NCBI36
NG_007294.1:g.39245del

Transcript Alleles

HGVS	Amino-acid change
ENST00000317799.10:c.693del MANE Select	ENSP00000325136.5:p.Ala232LeufsTer20
ENST00000317799.9:c.693del	ENSP00000325136.5:p.Ala232LeufsTer20
ENST00000405867.7:c.443-797del	ENSP00000385411.3:n.443-797del
ENST00000494615.1:n.1640del
ENST00000537713.5:c.648del	ENSP00000444295.1:p.Ala217LeufsTer20
ENST00000545822.2:c.627del	ENSP00000442665.1:p.Ala210LeufsTer20
NM_000183.2:c.693del	NP_000174.1:p.Ala232LeufsTer20
NM_001281512.1:c.648del	NP_001268441.1:p.Ala217LeufsTer20
NM_001281513.1:c.627del	NP_001268442.1:p.Ala210LeufsTer20
XM_011532803.1:c.693del	XP_011531105.1:p.Ala232LeufsTer20
XM_011532804.1:c.627del	XP_011531106.1:p.Ala210LeufsTer20
XM_024452830.1:c.663del	XP_024308598.1:p.Ala222LeufsTer20
XM_024452831.1:c.627del	XP_024308599.1:p.Ala210LeufsTer20
NM_000183.3:c.693del MANE Select	NP_000174.1:p.Ala232LeufsTer20
NM_001281513.2:c.627del	NP_001268442.1:p.Ala210LeufsTer20
NM_001281512.2:c.648del	NP_001268441.1:p.Ala217LeufsTer20