Canonical Allele Identifier: CA2323498541

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647253_12647269delinsAGCCTGGAGGCTGCCTC , CM000681.2:g.12647253_12647269delinsAGCCTGGAGGCTGCCTC	GRCh38
NC_000019.9:g.12758067_12758083delinsAGCCTGGAGGCTGCCTC , CM000681.1:g.12758067_12758083delinsAGCCTGGAGGCTGCCTC	GRCh37
NC_000019.8:g.12619067_12619083delinsAGCCTGGAGGCTGCCTC	NCBI36
NG_008318.1:g.24509_24525delinsGAGGCAGCCTCCAGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2887_2903delinsGAGGCAGCCTCCAGGCT MANE Select	ENSP00000395473.2:p.Glu963=
ENST00000221363.8:c.2884_2900delinsGAGGCAGCCTCCAGGCT	ENSP00000221363.4:p.Glu962=
ENST00000456935.6:c.2887_2903delinsGAGGCAGCCTCCAGGCT	ENSP00000395473.2:p.Glu963=
ENST00000466794.5:n.3477_3493delinsGAGGCAGCCTCCAGGCT
ENST00000469423.1:n.316_332delinsGAGGCAGCCTCCAGGCT
ENST00000493218.5:n.298_314delinsGAGGCAGCCTCCAGGCT
ENST00000597692.1:c.446_462delinsGAGGCAGCCTCCAGGCT
NM_000528.3:c.2887_2903delinsGAGGCAGCCTCCAGGCT	NP_000519.2:p.Glu963=
NM_001173498.1:c.2884_2900delinsGAGGCAGCCTCCAGGCT	NP_001166969.1:p.Glu962=
XM_005259913.1:c.2890_2906delinsGAGGCAGCCTCCAGGCT	XP_005259970.1:p.Glu964=
XM_011528017.1:c.1786_1802delinsGAGGCAGCCTCCAGGCT	XP_011526319.1:p.Glu596=
XM_005259913.2:c.2890_2906delinsGAGGCAGCCTCCAGGCT	XP_005259970.1:p.Glu964=
XM_024451518.1:c.1786_1802delinsGAGGCAGCCTCCAGGCT	XP_024307286.1:p.Glu596=
NM_000528.4:c.2887_2903delinsGAGGCAGCCTCCAGGCT MANE Select	NP_000519.2:p.Glu963=
NM_001173498.2:c.2884_2900delinsGAGGCAGCCTCCAGGCT	NP_001166969.1:p.Glu962=