Canonical Allele Identifier: CA1239745856
Gene: HADHB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26285521_26285524delinsAAAG , CM000664.2:g.26285521_26285524delinsAAAG GRCh38
NC_000002.11:g.26508389_26508392delinsAAAG , CM000664.1:g.26508389_26508392delinsAAAG GRCh37
NC_000002.10:g.26361893_26361896delinsAAAG NCBI36
NG_007294.1:g.45569_45572delinsAAAG

Transcript Alleles

HGVS Amino-acid change
ENST00000317799.10:c.1339_1342delinsAAAG MANE Select ENSP00000325136.5:p.Lys447=
ENST00000317799.9:c.1339_1342delinsAAAG ENSP00000325136.5:p.Lys447=
ENST00000405867.7:c.970_973delinsAAAG ENSP00000385411.3:p.Lys324=
ENST00000494615.1:n.2286_2289delinsAAAG
ENST00000537713.5:c.1294_1297delinsAAAG ENSP00000444295.1:p.Lys432=
ENST00000545822.2:c.1273_1276delinsAAAG ENSP00000442665.1:p.Lys425=
NM_000183.2:c.1339_1342delinsAAAG NP_000174.1:p.Lys447=
NM_001281512.1:c.1294_1297delinsAAAG NP_001268441.1:p.Lys432=
NM_001281513.1:c.1273_1276delinsAAAG NP_001268442.1:p.Lys425=
XM_011532803.1:c.1339_1342delinsAAAG XP_011531105.1:p.Lys447=
XM_011532804.1:c.1273_1276delinsAAAG XP_011531106.1:p.Lys425=
XM_024452830.1:c.1309_1312delinsAAAG XP_024308598.1:p.Lys437=
XM_024452831.1:c.1273_1276delinsAAAG XP_024308599.1:p.Lys425=
NM_000183.3:c.1339_1342delinsAAAG MANE Select NP_000174.1:p.Lys447=
NM_001281513.2:c.1273_1276delinsAAAG NP_001268442.1:p.Lys425=
NM_001281512.2:c.1294_1297delinsAAAG NP_001268441.1:p.Lys432=