Canonical Allele Identifier: CA645533382
Gene: MITF HGNC NCBI

Linked Data

dbSNP Id: rs2107519537

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69951869del , CM000665.2:g.69951869del GRCh38
NC_000003.11:g.70001020del , CM000665.1:g.70001020del GRCh37
NC_000003.10:g.70083710del NCBI36
NG_011631.1:g.217388del , LRG_776:g.217388del

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.872del ENSP00000324443.5:p.Lys291ArgfsTer6
ENST00000687384.1:c.869del ENSP00000510225.1:p.Lys290ArgfsTer6
ENST00000689390.1:n.1094del
ENST00000693031.1:c.845del ENSP00000509845.1:p.Lys282ArgfsTer6
ENST00000693549.1:c.872del ENSP00000509358.1:p.Lys291ArgfsTer6
ENST00000314589.10:c.872del ENSP00000324443.5:p.Lys291ArgfsTer6
ENST00000352241.9:c.938del MANE Select ENSP00000295600.8:p.Lys313ArgfsTer6
ENST00000394351.9:c.617del MANE Plus Clinical ENSP00000377880.3:p.Lys206ArgfsTer6
ENST00000448226.9:c.917del ENSP00000391803.3:p.Lys306ArgfsTer6
ENST00000642352.1:c.920del ENSP00000494105.1:p.Lys307ArgfsTer6
ENST00000314557.10:c.599del ENSP00000324246.6:p.Lys200ArgfsTer6
ENST00000314589.9:c.872del ENSP00000324443.5:p.Lys291ArgfsTer6
ENST00000328528.10:c.917del ENSP00000327867.6:p.Lys306ArgfsTer6
ENST00000352241.8:c.920del ENSP00000295600.7:p.Lys307ArgfsTer6
ENST00000394351.7:c.617del ENSP00000377880.3:p.Lys206ArgfsTer6
ENST00000448226.6:c.938del ENSP00000391803.2:p.Lys313ArgfsTer6
ENST00000451708.5:c.890del ENSP00000398639.1:p.Lys297ArgfsTer6
ENST00000472437.5:c.764del ENSP00000418845.1:p.Lys255ArgfsTer6
ENST00000478490.5:c.*264del ENSP00000433487.1:n.*264del
ENST00000531774.1:c.431del ENSP00000435909.1:p.Lys144ArgfsTer6
NM_000248.3:c.617del , LRG_776t1:c.617del NP_000239.1:p.Lys206ArgfsTer6
NM_001184967.1:c.764del NP_001171896.1:p.Lys255ArgfsTer6
NM_006722.2:c.917del NP_006713.1:p.Lys306ArgfsTer6
NM_198158.2:c.599del NP_937801.1:p.Lys200ArgfsTer6
NM_198159.2:c.920del NP_937802.1:p.Lys307ArgfsTer6
NM_198177.2:c.872del NP_937820.1:p.Lys291ArgfsTer6
NM_198178.2:c.431del NP_937821.2:p.Lys144ArgfsTer6
XM_005264754.1:c.938del XP_005264811.1:p.Lys313ArgfsTer6
XM_005264755.2:c.890del XP_005264812.1:p.Lys297ArgfsTer6
XM_006713164.2:c.782del XP_006713227.1:p.Lys261ArgfsTer6
XM_011533722.1:c.935del XP_011532024.1:p.Lys312ArgfsTer6
XM_011533723.1:c.887del XP_011532025.1:p.Lys296ArgfsTer6
XM_011533724.1:c.782del XP_011532026.1:p.Lys261ArgfsTer6
XM_011533725.1:c.770del XP_011532027.1:p.Lys257ArgfsTer6
XM_011533726.1:c.752del XP_011532028.1:p.Lys251ArgfsTer6
NM_001354604.1:c.938del NP_001341533.1:p.Lys313ArgfsTer6
NM_001354605.1:c.935del NP_001341534.1:p.Lys312ArgfsTer6
NM_001354606.1:c.917del NP_001341535.1:p.Lys306ArgfsTer6
NM_001354607.1:c.869del NP_001341536.1:p.Lys290ArgfsTer6
NM_001354608.1:c.764del NP_001341537.1:p.Lys255ArgfsTer6
NM_001184967.2:c.764del NP_001171896.1:p.Lys255ArgfsTer6
NM_001354604.2:c.938del MANE Select NP_001341533.1:p.Lys313ArgfsTer6
NM_001354605.2:c.935del NP_001341534.1:p.Lys312ArgfsTer6
NM_001354606.2:c.917del NP_001341535.1:p.Lys306ArgfsTer6
NM_001354607.2:c.869del NP_001341536.1:p.Lys290ArgfsTer6
NM_001354608.2:c.764del NP_001341537.1:p.Lys255ArgfsTer6
NM_198158.3:c.599del NP_937801.1:p.Lys200ArgfsTer6
NM_198159.3:c.920del NP_937802.1:p.Lys307ArgfsTer6
NM_198177.3:c.872del NP_937820.1:p.Lys291ArgfsTer6
NM_198178.3:c.431del NP_937821.2:p.Lys144ArgfsTer6
NM_000248.4:c.617del MANE Plus Clinical NP_000239.1:p.Lys206ArgfsTer6
NM_006722.3:c.917del NP_006713.1:p.Lys306ArgfsTer6