Canonical Allele Identifier: CA2511758268
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12650519del , CM000681.2:g.12650519del GRCh38
NC_000019.9:g.12761333del , CM000681.1:g.12761333del GRCh37
NC_000019.8:g.12622333del NCBI36
NG_008318.1:g.21261del

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2047-295del MANE Select ENSP00000395473.2:n.2047-295del
ENST00000221363.8:c.2044-295del ENSP00000221363.4:n.2044-295del
ENST00000456935.6:c.2047-295del ENSP00000395473.2:n.2047-295del
ENST00000466794.5:n.2637-295del
NM_000528.3:c.2047-295del NP_000519.2:n.2047-295del
NM_001173498.1:c.2044-295del NP_001166969.1:n.2044-295del
XM_005259913.1:c.2050-295del XP_005259970.1:n.2050-295del
XM_011528017.1:c.946-295del XP_011526319.1:n.946-295del
XM_005259913.2:c.2050-295del XP_005259970.1:n.2050-295del
XM_024451518.1:c.946-295del XP_024307286.1:n.946-295del
NM_000528.4:c.2047-295del MANE Select NP_000519.2:n.2047-295del
NM_001173498.2:c.2044-295del NP_001166969.1:n.2044-295del