Canonical Allele Identifier: CA2702972924
Gene: MITF HGNC NCBI

Linked Data

dbSNP Id: rs2066263636

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69951822del , CM000665.2:g.69951822del GRCh38
NC_000003.11:g.70000973del , CM000665.1:g.70000973del GRCh37
NC_000003.10:g.70083663del NCBI36
NG_011631.1:g.217341del , LRG_776:g.217341del

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.833-8del ENSP00000324443.5:n.833-8del
ENST00000687384.1:c.830-8del ENSP00000510225.1:n.830-8del
ENST00000689390.1:n.1055-8del
ENST00000693031.1:c.806-8del ENSP00000509845.1:n.806-8del
ENST00000693549.1:c.833-8del ENSP00000509358.1:n.833-8del
ENST00000314589.10:c.833-8del ENSP00000324443.5:n.833-8del
ENST00000352241.9:c.891del MANE Select ENSP00000295600.8:p.Thr299GlnfsTer20
ENST00000394351.9:c.570del MANE Plus Clinical ENSP00000377880.3:p.Thr192GlnfsTer20
ENST00000448226.9:c.878-8del ENSP00000391803.3:n.878-8del
ENST00000642352.1:c.881-8del ENSP00000494105.1:n.881-8del
ENST00000314557.10:c.560-8del ENSP00000324246.6:n.560-8del
ENST00000314589.9:c.833-8del ENSP00000324443.5:n.833-8del
ENST00000328528.10:c.878-8del ENSP00000327867.6:n.878-8del
ENST00000352241.8:c.881-8del ENSP00000295600.7:n.881-8del
ENST00000394351.7:c.570del ENSP00000377880.3:p.Thr192GlnfsTer20
ENST00000448226.6:c.891del ENSP00000391803.2:p.Thr299GlnfsTer20
ENST00000451708.5:c.843del ENSP00000398639.1:p.Thr283GlnfsTer20
ENST00000472437.5:c.725-8del ENSP00000418845.1:n.725-8del
ENST00000478490.5:c.*217del ENSP00000433487.1:n.*217del
ENST00000531774.1:c.392-8del ENSP00000435909.1:n.392-8del
NM_000248.3:c.570del , LRG_776t1:c.570del NP_000239.1:p.Thr192GlnfsTer20
NM_001184967.1:c.725-8del NP_001171896.1:n.725-8del
NM_006722.2:c.878-8del NP_006713.1:n.878-8del
NM_198158.2:c.560-8del NP_937801.1:n.560-8del
NM_198159.2:c.881-8del NP_937802.1:n.881-8del
NM_198177.2:c.833-8del NP_937820.1:n.833-8del
NM_198178.2:c.392-8del NP_937821.2:n.392-8del
XM_005264754.1:c.891del XP_005264811.1:p.Thr299GlnfsTer20
XM_005264755.2:c.843del XP_005264812.1:p.Thr283GlnfsTer20
XM_006713164.2:c.735del XP_006713227.1:p.Thr247GlnfsTer20
XM_011533722.1:c.888del XP_011532024.1:p.Thr298GlnfsTer20
XM_011533723.1:c.840del XP_011532025.1:p.Thr282GlnfsTer20
XM_011533724.1:c.735del XP_011532026.1:p.Thr247GlnfsTer20
XM_011533725.1:c.723del XP_011532027.1:p.Thr243GlnfsTer20
XM_011533726.1:c.713-8del XP_011532028.1:n.713-8del
NM_001354604.1:c.891del NP_001341533.1:p.Thr299GlnfsTer20
NM_001354605.1:c.888del NP_001341534.1:p.Thr298GlnfsTer20
NM_001354606.1:c.878-8del NP_001341535.1:n.878-8del
NM_001354607.1:c.830-8del NP_001341536.1:n.830-8del
NM_001354608.1:c.725-8del NP_001341537.1:n.725-8del
NM_001184967.2:c.725-8del NP_001171896.1:n.725-8del
NM_001354604.2:c.891del MANE Select NP_001341533.1:p.Thr299GlnfsTer20
NM_001354605.2:c.888del NP_001341534.1:p.Thr298GlnfsTer20
NM_001354606.2:c.878-8del NP_001341535.1:n.878-8del
NM_001354607.2:c.830-8del NP_001341536.1:n.830-8del
NM_001354608.2:c.725-8del NP_001341537.1:n.725-8del
NM_198158.3:c.560-8del NP_937801.1:n.560-8del
NM_198159.3:c.881-8del NP_937802.1:n.881-8del
NM_198177.3:c.833-8del NP_937820.1:n.833-8del
NM_198178.3:c.392-8del NP_937821.2:n.392-8del
NM_000248.4:c.570del MANE Plus Clinical NP_000239.1:p.Thr192GlnfsTer20
NM_006722.3:c.878-8del NP_006713.1:n.878-8del