Canonical Allele Identifier: CA2323504390

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658458_12658459delinsAG , CM000681.2:g.12658458_12658459delinsAG	GRCh38
NC_000019.9:g.12769272_12769273delinsAG , CM000681.1:g.12769272_12769273delinsAG	GRCh37
NC_000019.8:g.12630272_12630273delinsAG	NCBI36
NG_008318.1:g.13319_13320delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1078_1079delinsCT MANE Select	ENSP00000395473.2:p.Leu360=
ENST00000221363.8:c.1075_1076delinsCT	ENSP00000221363.4:p.Leu359=
ENST00000456935.6:c.1078_1079delinsCT	ENSP00000395473.2:p.Leu360=
ENST00000465830.1:n.159_160delinsCT
ENST00000466794.5:n.1009-115_1009-114delinsCT
ENST00000495617.1:n.280+272_280+273delinsCT
NM_000528.3:c.1078_1079delinsCT	NP_000519.2:p.Leu360=
NM_001173498.1:c.1075_1076delinsCT	NP_001166969.1:p.Leu359=
XM_005259913.1:c.1081_1082delinsCT	XP_005259970.1:p.Leu361=
XM_011528017.1:c.9-115_9-114delinsCT	XP_011526319.1:n.9-115_9-114delinsCT
XM_005259913.2:c.1081_1082delinsCT	XP_005259970.1:p.Leu361=
XM_024451518.1:c.9-115_9-114delinsCT	XP_024307286.1:n.9-115_9-114delinsCT
NM_000528.4:c.1078_1079delinsCT MANE Select	NP_000519.2:p.Leu360=
NM_001173498.2:c.1075_1076delinsCT	NP_001166969.1:p.Leu359=