Canonical Allele Identifier: CA3026619
Community Standard Title: NM_005908.4(MANBA):c.2416-11_2416-10del
Gene: MANBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102632300_102632301del , CM000666.2:g.102632300_102632301del GRCh38
NC_000004.11:g.103553457_103553458del , CM000666.1:g.103553457_103553458del GRCh37
NC_000004.10:g.103772505_103772506del NCBI36
NG_012804.1:g.133703_133704del
NG_012804.2:g.133703_133704del

Transcript Alleles

HGVS Amino-acid Change
NM_005908.4:c.2416-11_2416-10del MANE Select NP_005899.3:n.2416-11_2416-10del
ENST00000647097.2:c.2416-11_2416-10del MANE Select ENSP00000495247.1:n.2416-11_2416-10del
NM_005908.3:c.2416-11_2416-10del NP_005899.3:n.2416-11_2416-10del
ENST00000226578.8:c.2416-11_2416-10del ENSP00000226578.4:n.2416-11_2416-10del
ENST00000505239.1:c.2245-11_2245-10del ENSP00000427322.1:n.2245-11_2245-10del
ENST00000514430.5:n.6651-11_6651-10del
ENST00000642252.1:c.2554-11_2554-10del ENSP00000495483.1:n.2554-11_2554-10del
ENST00000644159.1:c.2639-11_2639-10del ENSP00000494462.1:n.2639-11_2639-10del
ENST00000644545.1:c.*1056-11_*1056-10del ENSP00000493992.1:n.*1056-11_*1056-10del
ENST00000645348.1:c.*1438-11_*1438-10del ENSP00000495363.1:n.*1438-11_*1438-10del
ENST00000645558.1:c.2084-11_2084-10del
ENST00000646311.1:c.*1536-11_*1536-10del ENSP00000493465.1:n.*1536-11_*1536-10del
ENST00000646727.1:c.*1270-11_*1270-10del ENSP00000493519.1:n.*1270-11_*1270-10del
ENST00000647129.1:c.2505-11_2505-10del ENSP00000496137.1:n.2505-11_2505-10del
XM_011531965.1:c.1510-11_1510-10del XP_011530267.1:n.1510-11_1510-10del
XM_011531966.1:c.1171-11_1171-10del XP_011530268.1:n.1171-11_1171-10del
XM_017008203.1:c.2053-11_2053-10del XP_016863692.1:n.2053-11_2053-10del
XM_017008204.2:c.1768-11_1768-10del XP_016863693.1:n.1768-11_1768-10del
XM_017008205.2:c.1210-11_1210-10del XP_016863694.1:n.1210-11_1210-10del
XM_024454048.1:c.2341-11_2341-10del XP_024309816.1:n.2341-11_2341-10del
XM_024454049.1:c.2053-11_2053-10del XP_024309817.1:n.2053-11_2053-10del