Canonical Allele Identifier: CA2658216681

Gene: HADHB

Linked Data

• gnomAD v4: 2-26282983-CCTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26282986_26282989del , CM000664.2:g.26282986_26282989del	GRCh38
NC_000002.11:g.26505854_26505857del , CM000664.1:g.26505854_26505857del	GRCh37
NC_000002.10:g.26359358_26359361del	NCBI36
NG_007294.1:g.43034_43037del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317799.10:c.1014-18_1014-15del MANE Select	ENSP00000325136.5:n.1014-18_1014-15del
ENST00000317799.9:c.1014-18_1014-15del	ENSP00000325136.5:n.1014-18_1014-15del
ENST00000405867.7:c.645-18_645-15del	ENSP00000385411.3:n.645-18_645-15del
ENST00000494615.1:n.1961-18_1961-15del
ENST00000537713.5:c.969-18_969-15del	ENSP00000444295.1:n.969-18_969-15del
ENST00000545822.2:c.948-18_948-15del	ENSP00000442665.1:n.948-18_948-15del
NM_000183.2:c.1014-18_1014-15del	NP_000174.1:n.1014-18_1014-15del
NM_001281512.1:c.969-18_969-15del	NP_001268441.1:n.969-18_969-15del
NM_001281513.1:c.948-18_948-15del	NP_001268442.1:n.948-18_948-15del
XM_011532803.1:c.1014-18_1014-15del	XP_011531105.1:n.1014-18_1014-15del
XM_011532804.1:c.948-18_948-15del	XP_011531106.1:n.948-18_948-15del
XM_024452830.1:c.984-18_984-15del	XP_024308598.1:n.984-18_984-15del
XM_024452831.1:c.948-18_948-15del	XP_024308599.1:n.948-18_948-15del
NM_000183.3:c.1014-18_1014-15del MANE Select	NP_000174.1:n.1014-18_1014-15del
NM_001281513.2:c.948-18_948-15del	NP_001268442.1:n.948-18_948-15del
NM_001281512.2:c.969-18_969-15del	NP_001268441.1:n.969-18_969-15del