Canonical Allele Identifier: CA623704042
Community Standard Title: NM_005360.5(MAF):c.1118+200_1118+203del
Gene: MAF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.79598607_79598610del , CM000678.2:g.79598607_79598610del GRCh38
NC_000016.9:g.79632504_79632507del , CM000678.1:g.79632504_79632507del GRCh37
NC_000016.8:g.78190005_78190008del NCBI36
NG_016440.1:g.7141_7144del

Transcript Alleles

HGVS Amino-acid Change
NM_005360.5:c.1118+200_1118+203del MANE Select NP_005351.2:n.1118+200_1118+203del
ENST00000326043.5:c.1118+200_1118+203del MANE Select ENSP00000327048.4:n.1118+200_1118+203del
NM_001031804.2:c.*196_*199del NP_001026974.1:n.*196_*199del
NM_001031804.3:c.*196_*199del NP_001026974.1:n.*196_*199del
NM_005360.4:c.1118+200_1118+203del NP_005351.2:n.1118+200_1118+203del
ENST00000326043.4:c.1118+200_1118+203del ENSP00000327048.4:n.1118+200_1118+203del
ENST00000393350.1:c.*196_*199del ENSP00000377019.1:n.*196_*199del
ENST00000569649.1:c.1118+200_1118+203del ENSP00000455097.1:n.1118+200_1118+203del
XM_011523084.1:c.1118+200_1118+203del XP_011521386.1:n.1118+200_1118+203del
XM_017023233.2:c.1118+200_1118+203del XP_016878722.1:n.1118+200_1118+203del
XM_017023234.2:c.1118+200_1118+203del XP_016878723.1:n.1118+200_1118+203del
XM_017023235.2:c.1118+200_1118+203del XP_016878724.1:n.1118+200_1118+203del
XM_024450279.1:c.1118+200_1118+203del XP_024306047.1:n.1118+200_1118+203del
XR_001751902.2:n.3168+200_3168+203del
XR_002957802.1:n.3168+200_3168+203del
XR_002957803.1:n.3168+200_3168+203del
XR_002957804.1:n.3168+200_3168+203del