Canonical Allele Identifier: CA2666480942
Gene: MITF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69965023_69965025del , CM000665.2:g.69965023_69965025del GRCh38
NC_000003.11:g.70014174_70014176del , CM000665.1:g.70014174_70014176del GRCh37
NC_000003.10:g.70096864_70096866del NCBI36
NG_011631.1:g.230542_230544del , LRG_776:g.230542_230544del

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.1290_1292del ENSP00000324443.5:p.Gly431del
ENST00000687384.1:c.1287_1289del ENSP00000510225.1:p.Gly430del
ENST00000689390.1:n.1512_1514del
ENST00000693031.1:c.1263_1265del ENSP00000509845.1:p.Gly422del
ENST00000693549.1:c.*101_*103del ENSP00000509358.1:n.*101_*103del
ENST00000314589.10:c.1290_1292del ENSP00000324443.5:p.Gly431del
ENST00000352241.9:c.1356_1358del MANE Select ENSP00000295600.8:p.Gly453del
ENST00000394351.9:c.1035_1037del MANE Plus Clinical ENSP00000377880.3:p.Gly346del
ENST00000448226.9:c.1335_1337del ENSP00000391803.3:p.Gly446del
ENST00000642352.1:c.1338_1340del ENSP00000494105.1:p.Gly447del
ENST00000314557.10:c.1017_1019del ENSP00000324246.6:p.Gly340del
ENST00000314589.9:c.1290_1292del ENSP00000324443.5:p.Gly431del
ENST00000328528.10:c.1335_1337del ENSP00000327867.6:p.Gly446del
ENST00000352241.8:c.1338_1340del ENSP00000295600.7:p.Gly447del
ENST00000394351.7:c.1035_1037del ENSP00000377880.3:p.Gly346del
ENST00000448226.6:c.1356_1358del ENSP00000391803.2:p.Gly453del
ENST00000472437.5:c.1182_1184del ENSP00000418845.1:p.Gly395del
ENST00000478490.5:c.*682_*684del ENSP00000433487.1:n.*682_*684del
ENST00000531774.1:c.849_851del ENSP00000435909.1:p.Gly284del
NM_000248.3:c.1035_1037del , LRG_776t1:c.1035_1037del NP_000239.1:p.Gly346del
NM_001184967.1:c.1182_1184del NP_001171896.1:p.Gly395del
NM_006722.2:c.1335_1337del NP_006713.1:p.Gly446del
NM_198158.2:c.1017_1019del NP_937801.1:p.Gly340del
NM_198159.2:c.1338_1340del NP_937802.1:p.Gly447del
NM_198177.2:c.1290_1292del NP_937820.1:p.Gly431del
NM_198178.2:c.849_851del NP_937821.2:p.Gly284del
XM_005264754.1:c.1356_1358del XP_005264811.1:p.Gly453del
XM_005264755.2:c.1308_1310del XP_005264812.1:p.Gly437del
XM_006713164.2:c.1200_1202del XP_006713227.1:p.Gly401del
XM_011533722.1:c.1353_1355del XP_011532024.1:p.Gly452del
XM_011533723.1:c.1305_1307del XP_011532025.1:p.Gly436del
XM_011533724.1:c.1200_1202del XP_011532026.1:p.Gly401del
XM_011533725.1:c.1188_1190del XP_011532027.1:p.Gly397del
XM_011533726.1:c.1170_1172del XP_011532028.1:p.Gly391del
NM_001354604.1:c.1356_1358del NP_001341533.1:p.Gly453del
NM_001354605.1:c.1353_1355del NP_001341534.1:p.Gly452del
NM_001354606.1:c.1335_1337del NP_001341535.1:p.Gly446del
NM_001354607.1:c.1287_1289del NP_001341536.1:p.Gly430del
NM_001354608.1:c.1182_1184del NP_001341537.1:p.Gly395del
NM_001184967.2:c.1182_1184del NP_001171896.1:p.Gly395del
NM_001354604.2:c.1356_1358del MANE Select NP_001341533.1:p.Gly453del
NM_001354605.2:c.1353_1355del NP_001341534.1:p.Gly452del
NM_001354606.2:c.1335_1337del NP_001341535.1:p.Gly446del
NM_001354607.2:c.1287_1289del NP_001341536.1:p.Gly430del
NM_001354608.2:c.1182_1184del NP_001341537.1:p.Gly395del
NM_198158.3:c.1017_1019del NP_937801.1:p.Gly340del
NM_198159.3:c.1338_1340del NP_937802.1:p.Gly447del
NM_198177.3:c.1290_1292del NP_937820.1:p.Gly431del
NM_198178.3:c.849_851del NP_937821.2:p.Gly284del
NM_000248.4:c.1035_1037del MANE Plus Clinical NP_000239.1:p.Gly346del
NM_006722.3:c.1335_1337del NP_006713.1:p.Gly446del