Canonical Allele Identifier: CA2323504087

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657952_12657953delinsCT , CM000681.2:g.12657952_12657953delinsCT	GRCh38
NC_000019.9:g.12768766_12768767delinsCT , CM000681.1:g.12768766_12768767delinsCT	GRCh37
NC_000019.8:g.12629766_12629767delinsCT	NCBI36
NG_008318.1:g.13825_13826delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+110_1309+111delinsAG MANE Select	ENSP00000395473.2:n.1309+110_1309+111delinsAG
ENST00000221363.8:c.1306+110_1306+111delinsAG	ENSP00000221363.4:n.1306+110_1306+111delinsAG
ENST00000456935.6:c.1309+110_1309+111delinsAG	ENSP00000395473.2:n.1309+110_1309+111delinsAG
ENST00000465830.1:n.473+110_473+111delinsAG
ENST00000466794.5:n.1208+110_1208+111delinsAG
ENST00000495617.1:n.281-193_281-192delinsAG
NM_000528.3:c.1309+110_1309+111delinsAG	NP_000519.2:n.1309+110_1309+111delinsAG
NM_001173498.1:c.1306+110_1306+111delinsAG	NP_001166969.1:n.1306+110_1306+111delinsAG
XM_005259913.1:c.1312+110_1312+111delinsAG	XP_005259970.1:n.1312+110_1312+111delinsAG
XM_011528017.1:c.208+110_208+111delinsAG	XP_011526319.1:n.208+110_208+111delinsAG
XM_005259913.2:c.1312+110_1312+111delinsAG	XP_005259970.1:n.1312+110_1312+111delinsAG
XM_024451518.1:c.208+110_208+111delinsAG	XP_024307286.1:n.208+110_208+111delinsAG
NM_000528.4:c.1309+110_1309+111delinsAG MANE Select	NP_000519.2:n.1309+110_1309+111delinsAG
NM_001173498.2:c.1306+110_1306+111delinsAG	NP_001166969.1:n.1306+110_1306+111delinsAG