Canonical Allele Identifier: CA2323504090

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657953_12657957delinsTCAAA , CM000681.2:g.12657953_12657957delinsTCAAA	GRCh38
NC_000019.9:g.12768767_12768771delinsTCAAA , CM000681.1:g.12768767_12768771delinsTCAAA	GRCh37
NC_000019.8:g.12629767_12629771delinsTCAAA	NCBI36
NG_008318.1:g.13821_13825delinsTTTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+106_1309+110delinsTTTGA MANE Select	ENSP00000395473.2:n.1309+106_1309+110delinsTTTGA
ENST00000221363.8:c.1306+106_1306+110delinsTTTGA	ENSP00000221363.4:n.1306+106_1306+110delinsTTTGA
ENST00000456935.6:c.1309+106_1309+110delinsTTTGA	ENSP00000395473.2:n.1309+106_1309+110delinsTTTGA
ENST00000465830.1:n.473+106_473+110delinsTTTGA
ENST00000466794.5:n.1208+106_1208+110delinsTTTGA
ENST00000495617.1:n.281-197_281-193delinsTTTGA
NM_000528.3:c.1309+106_1309+110delinsTTTGA	NP_000519.2:n.1309+106_1309+110delinsTTTGA
NM_001173498.1:c.1306+106_1306+110delinsTTTGA	NP_001166969.1:n.1306+106_1306+110delinsTTTGA
XM_005259913.1:c.1312+106_1312+110delinsTTTGA	XP_005259970.1:n.1312+106_1312+110delinsTTTGA
XM_011528017.1:c.208+106_208+110delinsTTTGA	XP_011526319.1:n.208+106_208+110delinsTTTGA
XM_005259913.2:c.1312+106_1312+110delinsTTTGA	XP_005259970.1:n.1312+106_1312+110delinsTTTGA
XM_024451518.1:c.208+106_208+110delinsTTTGA	XP_024307286.1:n.208+106_208+110delinsTTTGA
NM_000528.4:c.1309+106_1309+110delinsTTTGA MANE Select	NP_000519.2:n.1309+106_1309+110delinsTTTGA
NM_001173498.2:c.1306+106_1306+110delinsTTTGA	NP_001166969.1:n.1306+106_1306+110delinsTTTGA