Canonical Allele Identifier: CA2576635178

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12661265del , CM000681.2:g.12661265del	GRCh38
NC_000019.9:g.12772079del , CM000681.1:g.12772079del	GRCh37
NC_000019.8:g.12633079del	NCBI36
NG_008318.1:g.10513del

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.1021del MANE Select	ENSP00000395473.2:p.Ala341ArgfsTer23
ENST00000221363.8:c.1021del	ENSP00000221363.4:p.Ala341ArgfsTer22
ENST00000456935.6:c.1021del	ENSP00000395473.2:p.Ala341ArgfsTer23
ENST00000462144.1:n.214del
ENST00000466794.5:n.1003del
NM_000528.3:c.1021del	NP_000519.2:p.Ala341ArgfsTer23
NM_001173498.1:c.1021del	NP_001166969.1:p.Ala341ArgfsTer22
XM_005259913.1:c.1021del	XP_005259970.1:p.Ala341ArgfsTer24
XM_011528017.1:c.3del	XP_011526319.1:p.Met1IlefsTer5
XM_005259913.2:c.1021del	XP_005259970.1:p.Ala341ArgfsTer24
XM_024451518.1:c.3del	XP_024307286.1:p.Met1IlefsTer5
NM_000528.4:c.1021del MANE Select	NP_000519.2:p.Ala341ArgfsTer23
NM_001173498.2:c.1021del	NP_001166969.1:p.Ala341ArgfsTer22