Canonical Allele Identifier: CA2323498713

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647591_12647593delinsCCT , CM000681.2:g.12647591_12647593delinsCCT	GRCh38
NC_000019.9:g.12758405_12758407delinsCCT , CM000681.1:g.12758405_12758407delinsCCT	GRCh37
NC_000019.8:g.12619405_12619407delinsCCT	NCBI36
NG_008318.1:g.24185_24187delinsAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2670_2672delinsAGG MANE Select	ENSP00000395473.2:p.Ser890=
ENST00000221363.8:c.2667_2669delinsAGG	ENSP00000221363.4:p.Ser889=
ENST00000456935.6:c.2670_2672delinsAGG	ENSP00000395473.2:p.Ser890=
ENST00000466794.5:n.3260_3262delinsAGG
ENST00000493218.5:n.81_83delinsAGG
ENST00000597692.1:c.229_231delinsAGG
NM_000528.3:c.2670_2672delinsAGG	NP_000519.2:p.Ser890=
NM_001173498.1:c.2667_2669delinsAGG	NP_001166969.1:p.Ser889=
XM_005259913.1:c.2673_2675delinsAGG	XP_005259970.1:p.Ser891=
XM_011528017.1:c.1569_1571delinsAGG	XP_011526319.1:p.Ser523=
XM_005259913.2:c.2673_2675delinsAGG	XP_005259970.1:p.Ser891=
XM_024451518.1:c.1569_1571delinsAGG	XP_024307286.1:p.Ser523=
NM_000528.4:c.2670_2672delinsAGG MANE Select	NP_000519.2:p.Ser890=
NM_001173498.2:c.2667_2669delinsAGG	NP_001166969.1:p.Ser889=