Canonical Allele Identifier: CA2323503688

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657329_12657331delinsAGC , CM000681.2:g.12657329_12657331delinsAGC	GRCh38
NC_000019.9:g.12768143_12768145delinsAGC , CM000681.1:g.12768143_12768145delinsAGC	GRCh37
NC_000019.8:g.12629143_12629145delinsAGC	NCBI36
NG_008318.1:g.14447_14449delinsGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1419+115_1419+117delinsGCT MANE Select	ENSP00000395473.2:n.1419+115_1419+117delinsGCT
ENST00000221363.8:c.1416+115_1416+117delinsGCT	ENSP00000221363.4:n.1416+115_1416+117delinsGCT
ENST00000456935.6:c.1419+115_1419+117delinsGCT	ENSP00000395473.2:n.1419+115_1419+117delinsGCT
ENST00000466794.5:n.1318+115_1318+117delinsGCT
ENST00000495617.1:n.595+115_595+117delinsGCT
ENST00000593686.1:c.29+115_29+117delinsGCT
ENST00000595880.5:n.16+33_16+35delinsGCT
NM_000528.3:c.1419+115_1419+117delinsGCT	NP_000519.2:n.1419+115_1419+117delinsGCT
NM_001173498.1:c.1416+115_1416+117delinsGCT	NP_001166969.1:n.1416+115_1416+117delinsGCT
XM_005259913.1:c.1422+115_1422+117delinsGCT	XP_005259970.1:n.1422+115_1422+117delinsGCT
XM_011528017.1:c.318+115_318+117delinsGCT	XP_011526319.1:n.318+115_318+117delinsGCT
XM_005259913.2:c.1422+115_1422+117delinsGCT	XP_005259970.1:n.1422+115_1422+117delinsGCT
XM_024451518.1:c.318+115_318+117delinsGCT	XP_024307286.1:n.318+115_318+117delinsGCT
NM_000528.4:c.1419+115_1419+117delinsGCT MANE Select	NP_000519.2:n.1419+115_1419+117delinsGCT
NM_001173498.2:c.1416+115_1416+117delinsGCT	NP_001166969.1:n.1416+115_1416+117delinsGCT