Canonical Allele Identifier: CA1560428

Gene: HADHB

Linked Data

• dbSNP Id: rs773727060
• ExAC: 2:26505921 T / TAG
• gnomAD v2: 2-26505921-T-TAG
• gnomAD v3: 2-26283053-T-TAG
• gnomAD v4: 2-26283053-T-TAG
• MyVariant Identifiers: chr2:g.26505921_26505922insAG (hg19) ; chr2:g.26283053_26283054insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26283054_26283055dup , CM000664.2:g.26283054_26283055dup	GRCh38
NC_000002.11:g.26505922_26505923dup , CM000664.1:g.26505922_26505923dup	GRCh37
NC_000002.10:g.26359426_26359427dup	NCBI36
NG_007294.1:g.43102_43103dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000317799.10:c.1061+3_1061+4dup MANE Select	ENSP00000325136.5:n.1061+3_1061+4dup
ENST00000317799.9:c.1061+3_1061+4dup	ENSP00000325136.5:n.1061+3_1061+4dup
ENST00000405867.7:c.692+3_692+4dup	ENSP00000385411.3:n.692+3_692+4dup
ENST00000494615.1:n.2008+3_2008+4dup
ENST00000537713.5:c.1016+3_1016+4dup	ENSP00000444295.1:n.1016+3_1016+4dup
ENST00000545822.2:c.995+3_995+4dup	ENSP00000442665.1:n.995+3_995+4dup
NM_000183.2:c.1061+3_1061+4dup	NP_000174.1:n.1061+3_1061+4dup
NM_001281512.1:c.1016+3_1016+4dup	NP_001268441.1:n.1016+3_1016+4dup
NM_001281513.1:c.995+3_995+4dup	NP_001268442.1:n.995+3_995+4dup
XM_011532803.1:c.1061+3_1061+4dup	XP_011531105.1:n.1061+3_1061+4dup
XM_011532804.1:c.995+3_995+4dup	XP_011531106.1:n.995+3_995+4dup
XM_024452830.1:c.1031+3_1031+4dup	XP_024308598.1:n.1031+3_1031+4dup
XM_024452831.1:c.995+3_995+4dup	XP_024308599.1:n.995+3_995+4dup
NM_000183.3:c.1061+3_1061+4dup MANE Select	NP_000174.1:n.1061+3_1061+4dup
NM_001281513.2:c.995+3_995+4dup	NP_001268442.1:n.995+3_995+4dup
NM_001281512.2:c.1016+3_1016+4dup	NP_001268441.1:n.1016+3_1016+4dup