Canonical Allele Identifier: CA1560501

Gene: HADHB

Linked Data

• dbSNP Id: rs752821014
• ExAC: 2:26508260 CT / C
• gnomAD v2: 2-26508260-CT-C
• gnomAD v4: 2-26285392-CT-C
• MyVariant Identifiers: chr2:g.26508261del (hg19) ; chr2:g.26285393del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26285395del , CM000664.2:g.26285395del	GRCh38
NC_000002.11:g.26508263del , CM000664.1:g.26508263del	GRCh37
NC_000002.10:g.26361767del	NCBI36
NG_007294.1:g.45443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317799.10:c.1225-12del MANE Select	ENSP00000325136.5:n.1225-12del
ENST00000317799.9:c.1225-12del	ENSP00000325136.5:n.1225-12del
ENST00000405867.7:c.856-12del	ENSP00000385411.3:n.856-12del
ENST00000494615.1:n.2172-12del
ENST00000537713.5:c.1180-12del	ENSP00000444295.1:n.1180-12del
ENST00000545822.2:c.1159-12del	ENSP00000442665.1:n.1159-12del
NM_000183.2:c.1225-12del	NP_000174.1:n.1225-12del
NM_001281512.1:c.1180-12del	NP_001268441.1:n.1180-12del
NM_001281513.1:c.1159-12del	NP_001268442.1:n.1159-12del
XM_011532803.1:c.1225-12del	XP_011531105.1:n.1225-12del
XM_011532804.1:c.1159-12del	XP_011531106.1:n.1159-12del
XM_024452830.1:c.1195-12del	XP_024308598.1:n.1195-12del
XM_024452831.1:c.1159-12del	XP_024308599.1:n.1159-12del
NM_000183.3:c.1225-12del MANE Select	NP_000174.1:n.1225-12del
NM_001281513.2:c.1159-12del	NP_001268442.1:n.1159-12del
NM_001281512.2:c.1180-12del	NP_001268441.1:n.1180-12del