Canonical Allele Identifier: CA2323504085

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657952_12657956delinsCTCAA , CM000681.2:g.12657952_12657956delinsCTCAA	GRCh38
NC_000019.9:g.12768766_12768770delinsCTCAA , CM000681.1:g.12768766_12768770delinsCTCAA	GRCh37
NC_000019.8:g.12629766_12629770delinsCTCAA	NCBI36
NG_008318.1:g.13822_13826delinsTTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+107_1309+111delinsTTGAG MANE Select	ENSP00000395473.2:n.1309+107_1309+111delinsTTGAG
ENST00000221363.8:c.1306+107_1306+111delinsTTGAG	ENSP00000221363.4:n.1306+107_1306+111delinsTTGAG
ENST00000456935.6:c.1309+107_1309+111delinsTTGAG	ENSP00000395473.2:n.1309+107_1309+111delinsTTGAG
ENST00000465830.1:n.473+107_473+111delinsTTGAG
ENST00000466794.5:n.1208+107_1208+111delinsTTGAG
ENST00000495617.1:n.281-196_281-192delinsTTGAG
NM_000528.3:c.1309+107_1309+111delinsTTGAG	NP_000519.2:n.1309+107_1309+111delinsTTGAG
NM_001173498.1:c.1306+107_1306+111delinsTTGAG	NP_001166969.1:n.1306+107_1306+111delinsTTGAG
XM_005259913.1:c.1312+107_1312+111delinsTTGAG	XP_005259970.1:n.1312+107_1312+111delinsTTGAG
XM_011528017.1:c.208+107_208+111delinsTTGAG	XP_011526319.1:n.208+107_208+111delinsTTGAG
XM_005259913.2:c.1312+107_1312+111delinsTTGAG	XP_005259970.1:n.1312+107_1312+111delinsTTGAG
XM_024451518.1:c.208+107_208+111delinsTTGAG	XP_024307286.1:n.208+107_208+111delinsTTGAG
NM_000528.4:c.1309+107_1309+111delinsTTGAG MANE Select	NP_000519.2:n.1309+107_1309+111delinsTTGAG
NM_001173498.2:c.1306+107_1306+111delinsTTGAG	NP_001166969.1:n.1306+107_1306+111delinsTTGAG