Canonical Allele Identifier: CA2516275273
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12647921_12647924del , CM000681.2:g.12647921_12647924del GRCh38
NC_000019.9:g.12758735_12758738del , CM000681.1:g.12758735_12758738del GRCh37
NC_000019.8:g.12619735_12619738del NCBI36
NG_008318.1:g.23854_23857del

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2664+251_2664+254del MANE Select ENSP00000395473.2:n.2664+251_2664+254del
ENST00000221363.8:c.2661+251_2661+254del ENSP00000221363.4:n.2661+251_2661+254del
ENST00000456935.6:c.2664+251_2664+254del ENSP00000395473.2:n.2664+251_2664+254del
ENST00000466794.5:n.3254+251_3254+254del
ENST00000597692.1:c.223+251_223+254del
NM_000528.3:c.2664+251_2664+254del NP_000519.2:n.2664+251_2664+254del
NM_001173498.1:c.2661+251_2661+254del NP_001166969.1:n.2661+251_2661+254del
XM_005259913.1:c.2667+251_2667+254del XP_005259970.1:n.2667+251_2667+254del
XM_011528017.1:c.1563+251_1563+254del XP_011526319.1:n.1563+251_1563+254del
XM_005259913.2:c.2667+251_2667+254del XP_005259970.1:n.2667+251_2667+254del
XM_024451518.1:c.1563+251_1563+254del XP_024307286.1:n.1563+251_1563+254del
NM_000528.4:c.2664+251_2664+254del MANE Select NP_000519.2:n.2664+251_2664+254del
NM_001173498.2:c.2661+251_2661+254del NP_001166969.1:n.2661+251_2661+254del