Canonical Allele Identifier: CA2582722638
Gene: MAN2B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12665353del , CM000681.2:g.12665353del GRCh38
NC_000019.9:g.12776167del , CM000681.1:g.12776167del GRCh37
NC_000019.8:g.12637167del NCBI36
NG_008318.1:g.6427del
NG_015814.1:g.3550del

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.436+1del
ENST00000221363.8:c.436+1del
ENST00000456935.6:c.436+1del
ENST00000466794.5:n.418+1del
ENST00000486847.2:c.333+1del
ENST00000596512.5:n.374+1del
ENST00000597961.1:c.427+1del
ENST00000598876.1:c.463+1del
ENST00000600281.1:n.478del
NM_000528.3:c.436+1del
NM_001173498.1:c.436+1del
XM_005259913.1:c.436+1del
XM_005259913.2:c.436+1del
XM_024451518.1:c.-583+1del
NM_000528.4:c.436+1del
NM_001173498.2:c.436+1del