Canonical Allele Identifier: CA2323504081

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657950_12657952delinsGTC , CM000681.2:g.12657950_12657952delinsGTC	GRCh38
NC_000019.9:g.12768764_12768766delinsGTC , CM000681.1:g.12768764_12768766delinsGTC	GRCh37
NC_000019.8:g.12629764_12629766delinsGTC	NCBI36
NG_008318.1:g.13826_13828delinsGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+111_1309+113delinsGAC MANE Select	ENSP00000395473.2:n.1309+111_1309+113delinsGAC
ENST00000221363.8:c.1306+111_1306+113delinsGAC	ENSP00000221363.4:n.1306+111_1306+113delinsGAC
ENST00000456935.6:c.1309+111_1309+113delinsGAC	ENSP00000395473.2:n.1309+111_1309+113delinsGAC
ENST00000465830.1:n.473+111_473+113delinsGAC
ENST00000466794.5:n.1208+111_1208+113delinsGAC
ENST00000495617.1:n.281-192_281-190delinsGAC
NM_000528.3:c.1309+111_1309+113delinsGAC	NP_000519.2:n.1309+111_1309+113delinsGAC
NM_001173498.1:c.1306+111_1306+113delinsGAC	NP_001166969.1:n.1306+111_1306+113delinsGAC
XM_005259913.1:c.1312+111_1312+113delinsGAC	XP_005259970.1:n.1312+111_1312+113delinsGAC
XM_011528017.1:c.208+111_208+113delinsGAC	XP_011526319.1:n.208+111_208+113delinsGAC
XM_005259913.2:c.1312+111_1312+113delinsGAC	XP_005259970.1:n.1312+111_1312+113delinsGAC
XM_024451518.1:c.208+111_208+113delinsGAC	XP_024307286.1:n.208+111_208+113delinsGAC
NM_000528.4:c.1309+111_1309+113delinsGAC MANE Select	NP_000519.2:n.1309+111_1309+113delinsGAC
NM_001173498.2:c.1306+111_1306+113delinsGAC	NP_001166969.1:n.1306+111_1306+113delinsGAC