Canonical Allele Identifier: CA2838667298
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12655671del , CM000681.2:g.12655671del GRCh38
NC_000019.9:g.12766485del , CM000681.1:g.12766485del GRCh37
NC_000019.8:g.12627485del NCBI36
NG_008318.1:g.16109del

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.1830+25del MANE Select ENSP00000395473.2:n.1830+25del
ENST00000221363.8:c.1827+25del ENSP00000221363.4:n.1827+25del
ENST00000433513.5:n.436+25del
ENST00000456935.6:c.1830+25del ENSP00000395473.2:n.1830+25del
ENST00000466794.5:n.2420+25del
ENST00000593686.1:c.423+25del
ENST00000595880.5:n.427+25del
ENST00000596591.1:c.194+25del
NM_000528.3:c.1830+25del NP_000519.2:n.1830+25del
NM_001173498.1:c.1827+25del NP_001166969.1:n.1827+25del
XM_005259913.1:c.1833+25del XP_005259970.1:n.1833+25del
XM_011528017.1:c.729+25del XP_011526319.1:n.729+25del
XM_005259913.2:c.1833+25del XP_005259970.1:n.1833+25del
XM_024451518.1:c.729+25del XP_024307286.1:n.729+25del
NM_000528.4:c.1830+25del MANE Select NP_000519.2:n.1830+25del
NM_001173498.2:c.1827+25del NP_001166969.1:n.1827+25del