Canonical Allele Identifier: CA2695228379

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647306del , CM000681.2:g.12647306del	GRCh38
NC_000019.9:g.12758120del , CM000681.1:g.12758120del	GRCh37
NC_000019.8:g.12619120del	NCBI36
NG_008318.1:g.24473del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2851del MANE Select	ENSP00000395473.2:p.Leu951CysfsTer?
ENST00000221363.8:c.2848del	ENSP00000221363.4:p.Leu950CysfsTer?
ENST00000456935.6:c.2851del	ENSP00000395473.2:p.Leu951CysfsTer?
ENST00000466794.5:n.3441del
ENST00000469423.1:n.280del
ENST00000493218.5:n.262del
ENST00000597692.1:c.410del
NM_000528.3:c.2851del	NP_000519.2:p.Leu951CysfsTer?
NM_001173498.1:c.2848del	NP_001166969.1:p.Leu950CysfsTer?
XM_005259913.1:c.2854del	XP_005259970.1:p.Leu952CysfsTer?
XM_011528017.1:c.1750del	XP_011526319.1:p.Leu584CysfsTer?
XM_005259913.2:c.2854del	XP_005259970.1:p.Leu952CysfsTer?
XM_024451518.1:c.1750del	XP_024307286.1:p.Leu584CysfsTer?
NM_000528.4:c.2851del MANE Select	NP_000519.2:p.Leu951CysfsTer?
NM_001173498.2:c.2848del	NP_001166969.1:p.Leu950CysfsTer?