Canonical Allele Identifier: CA2580616496
Gene: MITF HGNC NCBI

Linked Data

ClinVar Variation Id: 1333434
ClinVar RCV Id: RCV001808122
dbSNP Id: rs2107519404

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69951830_69951831del , CM000665.2:g.69951830_69951831del GRCh38
NC_000003.11:g.70000981_70000982del , CM000665.1:g.70000981_70000982del GRCh37
NC_000003.10:g.70083671_70083672del NCBI36
NG_011631.1:g.217349_217350del , LRG_776:g.217349_217350del

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.833_834del
ENST00000687384.1:c.830_831del
ENST00000689390.1:n.1055_1056del
ENST00000693031.1:c.806_807del
ENST00000693549.1:c.833_834del
ENST00000314589.10:c.833_834del
ENST00000352241.9:c.899_900del MANE Select ENSP00000295600.8:p.Glu300ValfsTer2
ENST00000394351.9:c.578_579del MANE Plus Clinical ENSP00000377880.3:p.Glu193ValfsTer2
ENST00000448226.9:c.878_879del
ENST00000642352.1:c.881_882del
ENST00000314557.10:c.560_561del
ENST00000314589.9:c.833_834del
ENST00000328528.10:c.878_879del
ENST00000352241.8:c.881_882del
ENST00000394351.7:c.578_579del ENSP00000377880.3:p.Glu193ValfsTer2
ENST00000448226.6:c.899_900del ENSP00000391803.2:p.Glu300ValfsTer2
ENST00000451708.5:c.851_852del ENSP00000398639.1:p.Glu284ValfsTer2
ENST00000472437.5:c.725_726del
ENST00000478490.5:c.*225_*226del ENSP00000433487.1:n.*225_*226del
ENST00000531774.1:c.392_393del
NM_000248.3:c.578_579del , LRG_776t1:c.578_579del NP_000239.1:p.Glu193ValfsTer2
NM_001184967.1:c.725_726del
NM_006722.2:c.878_879del
NM_198158.2:c.560_561del
NM_198159.2:c.881_882del
NM_198177.2:c.833_834del
NM_198178.2:c.392_393del
XM_005264754.1:c.899_900del XP_005264811.1:p.Glu300ValfsTer2
XM_005264755.2:c.851_852del XP_005264812.1:p.Glu284ValfsTer2
XM_006713164.2:c.743_744del XP_006713227.1:p.Glu248ValfsTer2
XM_011533722.1:c.896_897del XP_011532024.1:p.Glu299ValfsTer2
XM_011533723.1:c.848_849del XP_011532025.1:p.Glu283ValfsTer2
XM_011533724.1:c.743_744del XP_011532026.1:p.Glu248ValfsTer2
XM_011533725.1:c.731_732del XP_011532027.1:p.Glu244ValfsTer2
XM_011533726.1:c.713_714del
NM_001354604.1:c.899_900del NP_001341533.1:p.Glu300ValfsTer2
NM_001354605.1:c.896_897del NP_001341534.1:p.Glu299ValfsTer2
NM_001354606.1:c.878_879del
NM_001354607.1:c.830_831del
NM_001354608.1:c.725_726del
NM_001184967.2:c.725_726del
NM_001354604.2:c.899_900del MANE Select NP_001341533.1:p.Glu300ValfsTer2
NM_001354605.2:c.896_897del NP_001341534.1:p.Glu299ValfsTer2
NM_001354606.2:c.878_879del
NM_001354607.2:c.830_831del
NM_001354608.2:c.725_726del
NM_198158.3:c.560_561del
NM_198159.3:c.881_882del
NM_198177.3:c.833_834del
NM_198178.3:c.392_393del
NM_000248.4:c.578_579del MANE Plus Clinical NP_000239.1:p.Glu193ValfsTer2
NM_006722.3:c.878_879del