Canonical Allele Identifier: CA2576634699
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12647343del , CM000681.2:g.12647343del GRCh38
NC_000019.9:g.12758157del , CM000681.1:g.12758157del GRCh37
NC_000019.8:g.12619157del NCBI36
NG_008318.1:g.24438del

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2821-5del MANE Select ENSP00000395473.2:n.2821-5del
ENST00000221363.8:c.2818-5del ENSP00000221363.4:n.2818-5del
ENST00000456935.6:c.2821-5del ENSP00000395473.2:n.2821-5del
ENST00000466794.5:n.3411-5del
ENST00000469423.1:n.245del
ENST00000493218.5:n.232-5del
ENST00000597692.1:c.380-5del
NM_000528.3:c.2821-5del NP_000519.2:n.2821-5del
NM_001173498.1:c.2818-5del NP_001166969.1:n.2818-5del
XM_005259913.1:c.2824-5del XP_005259970.1:n.2824-5del
XM_011528017.1:c.1720-5del XP_011526319.1:n.1720-5del
XM_005259913.2:c.2824-5del XP_005259970.1:n.2824-5del
XM_024451518.1:c.1720-5del XP_024307286.1:n.1720-5del
NM_000528.4:c.2821-5del MANE Select NP_000519.2:n.2821-5del
NM_001173498.2:c.2818-5del NP_001166969.1:n.2818-5del