Canonical Allele Identifier: CA10581502
Gene: MITF HGNC NCBI

Linked Data

ClinVar Variation Id: 236050
ClinVar RCV Id: RCV000225077
dbSNP Id: rs878853234

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69964875del , CM000665.2:g.69964875del GRCh38
NC_000003.11:g.70014026del , CM000665.1:g.70014026del GRCh37
NC_000003.10:g.70096716del NCBI36
NG_011631.1:g.230394del , LRG_776:g.230394del

Transcript Alleles

HGVS Amino-acid change
ENST00000314589.11:c.1142del ENSP00000324443.5:p.Gly381AspfsTer16
ENST00000687384.1:c.1139del ENSP00000510225.1:p.Gly380AspfsTer16
ENST00000689390.1:n.1364del
ENST00000693031.1:c.1115del ENSP00000509845.1:p.Gly372AspfsTer16
ENST00000693549.1:c.1114-39del ENSP00000509358.1:n.1114-39del
ENST00000314589.10:c.1142del ENSP00000324443.5:p.Gly381AspfsTer16
ENST00000352241.9:c.1208del MANE Select ENSP00000295600.8:p.Gly403AspfsTer16
ENST00000394351.9:c.887del MANE Plus Clinical ENSP00000377880.3:p.Gly296AspfsTer16
ENST00000448226.9:c.1187del ENSP00000391803.3:p.Gly396AspfsTer16
ENST00000642352.1:c.1190del ENSP00000494105.1:p.Gly397AspfsTer16
ENST00000314557.10:c.869del ENSP00000324246.6:p.Gly290AspfsTer16
ENST00000314589.9:c.1142del ENSP00000324443.5:p.Gly381AspfsTer16
ENST00000328528.10:c.1187del ENSP00000327867.6:p.Gly396AspfsTer16
ENST00000352241.8:c.1190del ENSP00000295600.7:p.Gly397AspfsTer16
ENST00000394351.7:c.887del ENSP00000377880.3:p.Gly296AspfsTer16
ENST00000448226.6:c.1208del ENSP00000391803.2:p.Gly403AspfsTer16
ENST00000472437.5:c.1034del ENSP00000418845.1:p.Gly345AspfsTer16
ENST00000478490.5:c.*534del ENSP00000433487.1:n.*534del
ENST00000531774.1:c.701del ENSP00000435909.1:p.Gly234AspfsTer16
NM_000248.3:c.887del , LRG_776t1:c.887del NP_000239.1:p.Gly296AspfsTer16
NM_001184967.1:c.1034del NP_001171896.1:p.Gly345AspfsTer16
NM_006722.2:c.1187del NP_006713.1:p.Gly396AspfsTer16
NM_198158.2:c.869del NP_937801.1:p.Gly290AspfsTer16
NM_198159.2:c.1190del NP_937802.1:p.Gly397AspfsTer16
NM_198177.2:c.1142del NP_937820.1:p.Gly381AspfsTer16
NM_198178.2:c.701del NP_937821.2:p.Gly234AspfsTer16
XM_005264754.1:c.1208del XP_005264811.1:p.Gly403AspfsTer16
XM_005264755.2:c.1160del XP_005264812.1:p.Gly387AspfsTer16
XM_006713164.2:c.1052del XP_006713227.1:p.Gly351AspfsTer16
XM_011533722.1:c.1205del XP_011532024.1:p.Gly402AspfsTer16
XM_011533723.1:c.1157del XP_011532025.1:p.Gly386AspfsTer16
XM_011533724.1:c.1052del XP_011532026.1:p.Gly351AspfsTer16
XM_011533725.1:c.1040del XP_011532027.1:p.Gly347AspfsTer16
XM_011533726.1:c.1022del XP_011532028.1:p.Gly341AspfsTer16
NM_001354604.1:c.1208del NP_001341533.1:p.Gly403AspfsTer16
NM_001354605.1:c.1205del NP_001341534.1:p.Gly402AspfsTer16
NM_001354606.1:c.1187del NP_001341535.1:p.Gly396AspfsTer16
NM_001354607.1:c.1139del NP_001341536.1:p.Gly380AspfsTer16
NM_001354608.1:c.1034del NP_001341537.1:p.Gly345AspfsTer16
NM_001184967.2:c.1034del NP_001171896.1:p.Gly345AspfsTer16
NM_001354604.2:c.1208del MANE Select NP_001341533.1:p.Gly403AspfsTer16
NM_001354605.2:c.1205del NP_001341534.1:p.Gly402AspfsTer16
NM_001354606.2:c.1187del NP_001341535.1:p.Gly396AspfsTer16
NM_001354607.2:c.1139del NP_001341536.1:p.Gly380AspfsTer16
NM_001354608.2:c.1034del NP_001341537.1:p.Gly345AspfsTer16
NM_198158.3:c.869del NP_937801.1:p.Gly290AspfsTer16
NM_198159.3:c.1190del NP_937802.1:p.Gly397AspfsTer16
NM_198177.3:c.1142del NP_937820.1:p.Gly381AspfsTer16
NM_198178.3:c.701del NP_937821.2:p.Gly234AspfsTer16
NM_000248.4:c.887del MANE Plus Clinical NP_000239.1:p.Gly296AspfsTer16
NM_006722.3:c.1187del NP_006713.1:p.Gly396AspfsTer16