Canonical Allele Identifier: CA2695228129

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658473del , CM000681.2:g.12658473del	GRCh38
NC_000019.9:g.12769287del , CM000681.1:g.12769287del	GRCh37
NC_000019.8:g.12630287del	NCBI36
NG_008318.1:g.13309del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1068del MANE Select	ENSP00000395473.2:p.Ala357LeufsTer7
ENST00000221363.8:c.1065del	ENSP00000221363.4:p.Ala356LeufsTer7
ENST00000456935.6:c.1068del	ENSP00000395473.2:p.Ala357LeufsTer7
ENST00000465830.1:n.149del
ENST00000466794.5:n.1009-125del
ENST00000495617.1:n.280+262del
NM_000528.3:c.1068del	NP_000519.2:p.Ala357LeufsTer7
NM_001173498.1:c.1065del	NP_001166969.1:p.Ala356LeufsTer7
XM_005259913.1:c.1071del	XP_005259970.1:p.Ala358LeufsTer7
XM_011528017.1:c.9-125del	XP_011526319.1:n.9-125del
XM_005259913.2:c.1071del	XP_005259970.1:p.Ala358LeufsTer7
XM_024451518.1:c.9-125del	XP_024307286.1:n.9-125del
NM_000528.4:c.1068del MANE Select	NP_000519.2:p.Ala357LeufsTer7
NM_001173498.2:c.1065del	NP_001166969.1:p.Ala356LeufsTer7