Canonical Allele Identifier: CA1560316

Gene: HADHB

Linked Data

• ClinVar Variation Id: 431822
• ClinVar RCV Id: RCV000497579 ; RCV001856999
• dbSNP Id: rs745646607
• ExAC: 2:26502064 C / CCGCT
• gnomAD v2: 2-26502064-C-CCGCT
• gnomAD v3: 2-26279196-C-CCGCT
• gnomAD v4: 2-26279196-C-CCGCT
• MyVariant Identifiers: chr2:g.26502065_26502068dup (hg19) ; chr2:g.26502064_26502065insCGCT (hg19) ; chr2:g.26279197_26279200dup (hg38) ; chr2:g.26279196_26279197insCGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26279197_26279200dup , CM000664.2:g.26279197_26279200dup	GRCh38
NC_000002.11:g.26502065_26502068dup , CM000664.1:g.26502065_26502068dup	GRCh37
NC_000002.10:g.26355569_26355572dup	NCBI36
NG_007294.1:g.39245_39248dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000317799.10:c.693_696dup MANE Select	ENSP00000325136.5:p.Ala233ArgfsTer12
ENST00000317799.9:c.693_696dup	ENSP00000325136.5:p.Ala233ArgfsTer12
ENST00000405867.7:c.443-797_443-794dup	ENSP00000385411.3:n.443-797_443-794dup
ENST00000494615.1:n.1640_1643dup
ENST00000537713.5:c.648_651dup	ENSP00000444295.1:p.Ala218ArgfsTer12
ENST00000545822.2:c.627_630dup	ENSP00000442665.1:p.Ala211ArgfsTer12
NM_000183.2:c.693_696dup	NP_000174.1:p.Ala233ArgfsTer12
NM_001281512.1:c.648_651dup	NP_001268441.1:p.Ala218ArgfsTer12
NM_001281513.1:c.627_630dup	NP_001268442.1:p.Ala211ArgfsTer12
XM_011532803.1:c.693_696dup	XP_011531105.1:p.Ala233ArgfsTer12
XM_011532804.1:c.627_630dup	XP_011531106.1:p.Ala211ArgfsTer12
XM_024452830.1:c.663_666dup	XP_024308598.1:p.Ala223ArgfsTer12
XM_024452831.1:c.627_630dup	XP_024308599.1:p.Ala211ArgfsTer12
NM_000183.3:c.693_696dup MANE Select	NP_000174.1:p.Ala233ArgfsTer12
NM_001281513.2:c.627_630dup	NP_001268442.1:p.Ala211ArgfsTer12
NM_001281512.2:c.648_651dup	NP_001268441.1:p.Ala218ArgfsTer12