Canonical Allele Identifier: CA2658218253

Gene: HADHB

Linked Data

• gnomAD v4: 2-26285486-GCAGGTTGGTCATGGCTGCTGCCAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26285490_26285513del , CM000664.2:g.26285490_26285513del	GRCh38
NC_000002.11:g.26508358_26508381del , CM000664.1:g.26508358_26508381del	GRCh37
NC_000002.10:g.26361862_26361885del	NCBI36
NG_007294.1:g.45538_45561del

Transcript Alleles

HGVS	Amino-acid change
ENST00000317799.10:c.1308_1331del MANE Select	ENSP00000325136.5:p.Leu437_Arg444del
ENST00000317799.9:c.1308_1331del	ENSP00000325136.5:p.Leu437_Arg444del
ENST00000405867.7:c.939_962del	ENSP00000385411.3:p.Leu314_Arg321del
ENST00000494615.1:n.2255_2278del
ENST00000537713.5:c.1263_1286del	ENSP00000444295.1:p.Leu422_Arg429del
ENST00000545822.2:c.1242_1265del	ENSP00000442665.1:p.Leu415_Arg422del
NM_000183.2:c.1308_1331del	NP_000174.1:p.Leu437_Arg444del
NM_001281512.1:c.1263_1286del	NP_001268441.1:p.Leu422_Arg429del
NM_001281513.1:c.1242_1265del	NP_001268442.1:p.Leu415_Arg422del
XM_011532803.1:c.1308_1331del	XP_011531105.1:p.Leu437_Arg444del
XM_011532804.1:c.1242_1265del	XP_011531106.1:p.Leu415_Arg422del
XM_024452830.1:c.1278_1301del	XP_024308598.1:p.Leu427_Arg434del
XM_024452831.1:c.1242_1265del	XP_024308599.1:p.Leu415_Arg422del
NM_000183.3:c.1308_1331del MANE Select	NP_000174.1:p.Leu437_Arg444del
NM_001281513.2:c.1242_1265del	NP_001268442.1:p.Leu415_Arg422del
NM_001281512.2:c.1263_1286del	NP_001268441.1:p.Leu422_Arg429del