Canonical Allele Identifier: CA2749235037
Gene: HADHB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26282982_26282984del , CM000664.2:g.26282982_26282984del GRCh38
NC_000002.11:g.26505850_26505852del , CM000664.1:g.26505850_26505852del GRCh37
NC_000002.10:g.26359354_26359356del NCBI36
NG_007294.1:g.43030_43032del

Transcript Alleles

HGVS Amino-acid Change
ENST00000317799.10:c.1014-22_1014-20del MANE Select ENSP00000325136.5:n.1014-22_1014-20del
ENST00000317799.9:c.1014-22_1014-20del ENSP00000325136.5:n.1014-22_1014-20del
ENST00000405867.7:c.645-22_645-20del ENSP00000385411.3:n.645-22_645-20del
ENST00000494615.1:n.1961-22_1961-20del
ENST00000537713.5:c.969-22_969-20del ENSP00000444295.1:n.969-22_969-20del
ENST00000545822.2:c.948-22_948-20del ENSP00000442665.1:n.948-22_948-20del
NM_000183.2:c.1014-22_1014-20del NP_000174.1:n.1014-22_1014-20del
NM_001281512.1:c.969-22_969-20del NP_001268441.1:n.969-22_969-20del
NM_001281513.1:c.948-22_948-20del NP_001268442.1:n.948-22_948-20del
XM_011532803.1:c.1014-22_1014-20del XP_011531105.1:n.1014-22_1014-20del
XM_011532804.1:c.948-22_948-20del XP_011531106.1:n.948-22_948-20del
XM_024452830.1:c.984-22_984-20del XP_024308598.1:n.984-22_984-20del
XM_024452831.1:c.948-22_948-20del XP_024308599.1:n.948-22_948-20del
NM_000183.3:c.1014-22_1014-20del MANE Select NP_000174.1:n.1014-22_1014-20del
NM_001281513.2:c.948-22_948-20del NP_001268442.1:n.948-22_948-20del
NM_001281512.2:c.969-22_969-20del NP_001268441.1:n.969-22_969-20del