Canonical Allele Identifier: CA3027274
Community Standard Title: NM_005908.4(MANBA):c.273-3del
Gene: MANBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102723977del , CM000666.2:g.102723977del GRCh38
NC_000004.11:g.103645134del , CM000666.1:g.103645134del GRCh37
NC_000004.10:g.103864180del NCBI36
NG_012804.1:g.42025del
NG_012804.2:g.42025del

Transcript Alleles

HGVS Amino-acid Change
NM_005908.4:c.273-3del MANE Select NP_005899.3:n.273-3del
ENST00000647097.2:c.273-3del MANE Select ENSP00000495247.1:n.273-3del
NM_005908.3:c.273-3del NP_005899.3:n.273-3del
ENST00000226578.8:c.273-3del ENSP00000226578.4:n.273-3del
ENST00000505239.1:c.273-3del ENSP00000427322.1:n.273-3del
ENST00000511813.1:c.*239-3del ENSP00000422001.1:n.*239-3del
ENST00000514430.5:n.320-3del
ENST00000642252.1:c.273-3del ENSP00000495483.1:n.273-3del
ENST00000644159.1:c.273-3del ENSP00000494462.1:n.273-3del
ENST00000644545.1:c.273-3del ENSP00000493992.1:n.273-3del
ENST00000644965.1:c.*178-3del ENSP00000495818.1:n.*178-3del
ENST00000645348.1:c.273-3del ENSP00000495363.1:n.273-3del
ENST00000646311.1:c.273-3del ENSP00000493465.1:n.273-3del
ENST00000646451.1:c.198-3del ENSP00000495846.1:n.198-3del
ENST00000646727.1:c.273-3del ENSP00000493519.1:n.273-3del
XM_017008203.1:c.-91-3del XP_016863692.1:n.-91-3del
XM_017008204.2:c.-252-3del XP_016863693.1:n.-252-3del
XM_024454048.1:c.198-3del XP_024309816.1:n.198-3del
XM_024454049.1:c.-91-3del XP_024309817.1:n.-91-3del