Canonical Allele Identifier: CA531395192

Gene: HADHB

Linked Data

• dbSNP Id: rs1228883943
• gnomAD v2: 2-26508389-AAAG-A
• gnomAD v4: 2-26285521-AAAG-A
• MyVariant Identifiers: chr2:g.26508390_26508392del (hg19) ; chr2:g.26285522_26285524del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26285525_26285527del , CM000664.2:g.26285525_26285527del	GRCh38
NC_000002.11:g.26508393_26508395del , CM000664.1:g.26508393_26508395del	GRCh37
NC_000002.10:g.26361897_26361899del	NCBI36
NG_007294.1:g.45573_45575del

Transcript Alleles

HGVS	Amino-acid change
ENST00000317799.10:c.1343_1345del MANE Select	ENSP00000325136.5:p.Glu448del
ENST00000317799.9:c.1343_1345del	ENSP00000325136.5:p.Glu448del
ENST00000405867.7:c.974_976del	ENSP00000385411.3:p.Glu325del
ENST00000494615.1:n.2290_2292del
ENST00000537713.5:c.1298_1300del	ENSP00000444295.1:p.Glu433del
ENST00000545822.2:c.1277_1279del	ENSP00000442665.1:p.Glu426del
NM_000183.2:c.1343_1345del	NP_000174.1:p.Glu448del
NM_001281512.1:c.1298_1300del	NP_001268441.1:p.Glu433del
NM_001281513.1:c.1277_1279del	NP_001268442.1:p.Glu426del
XM_011532803.1:c.1343_1345del	XP_011531105.1:p.Glu448del
XM_011532804.1:c.1277_1279del	XP_011531106.1:p.Glu426del
XM_024452830.1:c.1313_1315del	XP_024308598.1:p.Glu438del
XM_024452831.1:c.1277_1279del	XP_024308599.1:p.Glu426del
NM_000183.3:c.1343_1345del MANE Select	NP_000174.1:p.Glu448del
NM_001281513.2:c.1277_1279del	NP_001268442.1:p.Glu426del
NM_001281512.2:c.1298_1300del	NP_001268441.1:p.Glu433del