Canonical Allele Identifier: CA1640937071

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80167678_80167679delinsGA , CM000668.2:g.80167678_80167679delinsGA	GRCh38
NC_000006.11:g.80877395_80877396delinsGA , CM000668.1:g.80877395_80877396delinsGA	GRCh37
NC_000006.10:g.80934114_80934115delinsGA	NCBI36
NG_009775.1:g.66052_66053delinsGA
NG_009775.2:g.66052_66053delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.344_345delinsGA MANE Select	ENSP00000318351.5:p.Gly115=
ENST00000320393.8:c.344_345delinsGA	ENSP00000318351.5:p.Gly115=
ENST00000356489.9:c.344_345delinsGA	ENSP00000348880.5:p.Gly115=
ENST00000369760.8:c.344_345delinsGA	ENSP00000358775.4:p.Gly115=
NM_000056.3:c.344_345delinsGA	NP_000047.1:p.Gly115=
NM_183050.2:c.344_345delinsGA	NP_898871.1:p.Gly115=
XM_005248756.3:c.344_345delinsGA	XP_005248813.1:p.Gly115=
XM_006715542.2:c.134_135delinsGA	XP_006715605.1:p.Gly45=
XM_011536023.1:c.344_345delinsGA	XP_011534325.1:p.Gly115=
XM_011536024.1:c.344_345delinsGA	XP_011534326.1:p.Gly115=
XM_011536025.1:c.344_345delinsGA	XP_011534327.1:p.Gly115=
XM_011536026.1:c.134_135delinsGA	XP_011534328.1:p.Gly45=
XM_011536027.1:c.344_345delinsGA	XP_011534329.1:p.Gly115=
NM_000056.4:c.344_345delinsGA	NP_000047.1:p.Gly115=
NM_001318975.1:c.134_135delinsGA	NP_001305904.1:p.Gly45=
NM_183050.3:c.344_345delinsGA	NP_898871.1:p.Gly115=
NR_134945.1:n.428_429delinsGA
XM_005248756.5:c.344_345delinsGA	XP_005248813.1:p.Gly115=
XM_011536023.3:c.344_345delinsGA	XP_011534325.1:p.Gly115=
XM_011536024.3:c.344_345delinsGA	XP_011534326.1:p.Gly115=
XM_011536025.3:c.344_345delinsGA	XP_011534327.1:p.Gly115=
XR_001743546.2:n.374_375delinsGA
XR_001743547.2:n.374_375delinsGA
XR_001743548.2:n.374_375delinsGA
XR_001743549.2:n.374_375delinsGA
XR_002956292.1:n.374_375delinsGA
NM_183050.4:c.344_345delinsGA MANE Select	NP_898871.1:p.Gly115=
NR_134945.2:n.367_368delinsGA
NM_000056.5:c.344_345delinsGA	NP_000047.1:p.Gly115=