Canonical Allele Identifier: CA2323504094

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657953_12657962delinsTCAAAAAAAA , CM000681.2:g.12657953_12657962delinsTCAAAAAAAA	GRCh38
NC_000019.9:g.12768767_12768776delinsTCAAAAAAAA , CM000681.1:g.12768767_12768776delinsTCAAAAAAAA	GRCh37
NC_000019.8:g.12629767_12629776delinsTCAAAAAAAA	NCBI36
NG_008318.1:g.13816_13825delinsTTTTTTTTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+101_1309+110delinsTTTTTTTTGA MANE Select	ENSP00000395473.2:n.1309+101_1309+110delinsTTTTTTTTGA
ENST00000221363.8:c.1306+101_1306+110delinsTTTTTTTTGA	ENSP00000221363.4:n.1306+101_1306+110delinsTTTTTTTTGA
ENST00000456935.6:c.1309+101_1309+110delinsTTTTTTTTGA	ENSP00000395473.2:n.1309+101_1309+110delinsTTTTTTTTGA
ENST00000465830.1:n.473+101_473+110delinsTTTTTTTTGA
ENST00000466794.5:n.1208+101_1208+110delinsTTTTTTTTGA
ENST00000495617.1:n.281-202_281-193delinsTTTTTTTTGA
NM_000528.3:c.1309+101_1309+110delinsTTTTTTTTGA	NP_000519.2:n.1309+101_1309+110delinsTTTTTTTTGA
NM_001173498.1:c.1306+101_1306+110delinsTTTTTTTTGA	NP_001166969.1:n.1306+101_1306+110delinsTTTTTTTTGA
XM_005259913.1:c.1312+101_1312+110delinsTTTTTTTTGA	XP_005259970.1:n.1312+101_1312+110delinsTTTTTTTTGA
XM_011528017.1:c.208+101_208+110delinsTTTTTTTTGA	XP_011526319.1:n.208+101_208+110delinsTTTTTTTTGA
XM_005259913.2:c.1312+101_1312+110delinsTTTTTTTTGA	XP_005259970.1:n.1312+101_1312+110delinsTTTTTTTTGA
XM_024451518.1:c.208+101_208+110delinsTTTTTTTTGA	XP_024307286.1:n.208+101_208+110delinsTTTTTTTTGA
NM_000528.4:c.1309+101_1309+110delinsTTTTTTTTGA MANE Select	NP_000519.2:n.1309+101_1309+110delinsTTTTTTTTGA
NM_001173498.2:c.1306+101_1306+110delinsTTTTTTTTGA	NP_001166969.1:n.1306+101_1306+110delinsTTTTTTTTGA