Canonical Allele Identifier: CA2323507700

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665414_12665417delinsGAGA , CM000681.2:g.12665414_12665417delinsGAGA	GRCh38
NC_000019.9:g.12776228_12776231delinsGAGA , CM000681.1:g.12776228_12776231delinsGAGA	GRCh37
NC_000019.8:g.12637228_12637231delinsGAGA	NCBI36
NG_008318.1:g.6361_6364delinsTCTC
NG_015814.1:g.3611_3614delinsGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.371_374delinsTCTC MANE Select	ENSP00000395473.2:p.Phe124=
ENST00000221363.8:c.371_374delinsTCTC	ENSP00000221363.4:p.Phe124=
ENST00000456935.6:c.371_374delinsTCTC	ENSP00000395473.2:p.Phe124=
ENST00000466794.5:n.353_356delinsTCTC
ENST00000486847.2:c.268_271delinsTCTC	ENSP00000470174.1:p.Ser90=
ENST00000596512.5:n.309_312delinsTCTC
ENST00000597961.1:c.362_365delinsTCTC	ENSP00000472710.1:p.Phe121=
ENST00000598876.1:c.398_401delinsTCTC	ENSP00000470533.1:p.Phe133=
ENST00000600281.1:n.412_415delinsTCTC
NM_000528.3:c.371_374delinsTCTC	NP_000519.2:p.Phe124=
NM_001173498.1:c.371_374delinsTCTC	NP_001166969.1:p.Phe124=
XM_005259913.1:c.371_374delinsTCTC	XP_005259970.1:p.Phe124=
XM_005259913.2:c.371_374delinsTCTC	XP_005259970.1:p.Phe124=
XM_024451518.1:c.-648_-645delinsTCTC	XP_024307286.1:n.-648_-645delinsTCTC
NM_000528.4:c.371_374delinsTCTC MANE Select	NP_000519.2:p.Phe124=
NM_001173498.2:c.371_374delinsTCTC	NP_001166969.1:p.Phe124=