Canonical Allele Identifier: CA2323504188

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658075_12658092delinsTGTCTCCGGAGCCATAGG , CM000681.2:g.12658075_12658092delinsTGTCTCCGGAGCCATAGG	GRCh38
NC_000019.9:g.12768889_12768906delinsTGTCTCCGGAGCCATAGG , CM000681.1:g.12768889_12768906delinsTGTCTCCGGAGCCATAGG	GRCh37
NC_000019.8:g.12629889_12629906delinsTGTCTCCGGAGCCATAGG	NCBI36
NG_008318.1:g.13686_13703delinsCCTATGGCTCCGGAGACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1280_1297delinsCCTATGGCTCCGGAGACA MANE Select	ENSP00000395473.2:p.Pro427=
ENST00000221363.8:c.1277_1294delinsCCTATGGCTCCGGAGACA	ENSP00000221363.4:p.Pro426=
ENST00000456935.6:c.1280_1297delinsCCTATGGCTCCGGAGACA	ENSP00000395473.2:p.Pro427=
ENST00000465830.1:n.444_461delinsCCTATGGCTCCGGAGACA
ENST00000466794.5:n.1179_1196delinsCCTATGGCTCCGGAGACA
ENST00000495617.1:n.281-332_281-315delinsCCTATGGCTCCGGAGACA
NM_000528.3:c.1280_1297delinsCCTATGGCTCCGGAGACA	NP_000519.2:p.Pro427=
NM_001173498.1:c.1277_1294delinsCCTATGGCTCCGGAGACA	NP_001166969.1:p.Pro426=
XM_005259913.1:c.1283_1300delinsCCTATGGCTCCGGAGACA	XP_005259970.1:p.Pro428=
XM_011528017.1:c.179_196delinsCCTATGGCTCCGGAGACA	XP_011526319.1:p.Pro60=
XM_005259913.2:c.1283_1300delinsCCTATGGCTCCGGAGACA	XP_005259970.1:p.Pro428=
XM_024451518.1:c.179_196delinsCCTATGGCTCCGGAGACA	XP_024307286.1:p.Pro60=
NM_000528.4:c.1280_1297delinsCCTATGGCTCCGGAGACA MANE Select	NP_000519.2:p.Pro427=
NM_001173498.2:c.1277_1294delinsCCTATGGCTCCGGAGACA	NP_001166969.1:p.Pro426=