Canonical Allele Identifier: CA2586972652
Gene: MITF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69964868dup , CM000665.2:g.69964868dup GRCh38
NC_000003.11:g.70014019dup , CM000665.1:g.70014019dup GRCh37
NC_000003.10:g.70096709dup NCBI36
NG_011631.1:g.230387dup , LRG_776:g.230387dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.1135dup ENSP00000324443.5:p.Ala379GlyfsTer29
ENST00000687384.1:c.1132dup ENSP00000510225.1:p.Ala378GlyfsTer29
ENST00000689390.1:n.1357dup
ENST00000693031.1:c.1108dup ENSP00000509845.1:p.Ala370GlyfsTer29
ENST00000693549.1:c.1114-46dup ENSP00000509358.1:n.1114-46dup
ENST00000314589.10:c.1135dup ENSP00000324443.5:p.Ala379GlyfsTer29
ENST00000352241.9:c.1201dup MANE Select ENSP00000295600.8:p.Ala401GlyfsTer29
ENST00000394351.9:c.880dup MANE Plus Clinical ENSP00000377880.3:p.Ala294GlyfsTer29
ENST00000448226.9:c.1180dup ENSP00000391803.3:p.Ala394GlyfsTer29
ENST00000642352.1:c.1183dup ENSP00000494105.1:p.Ala395GlyfsTer29
ENST00000314557.10:c.862dup ENSP00000324246.6:p.Ala288GlyfsTer29
ENST00000314589.9:c.1135dup ENSP00000324443.5:p.Ala379GlyfsTer29
ENST00000328528.10:c.1180dup ENSP00000327867.6:p.Ala394GlyfsTer29
ENST00000352241.8:c.1183dup ENSP00000295600.7:p.Ala395GlyfsTer29
ENST00000394351.7:c.880dup ENSP00000377880.3:p.Ala294GlyfsTer29
ENST00000448226.6:c.1201dup ENSP00000391803.2:p.Ala401GlyfsTer29
ENST00000472437.5:c.1027dup ENSP00000418845.1:p.Ala343GlyfsTer29
ENST00000478490.5:c.*527dup ENSP00000433487.1:n.*527dup
ENST00000531774.1:c.694dup ENSP00000435909.1:p.Ala232GlyfsTer29
NM_000248.3:c.880dup , LRG_776t1:c.880dup NP_000239.1:p.Ala294GlyfsTer29
NM_001184967.1:c.1027dup NP_001171896.1:p.Ala343GlyfsTer29
NM_006722.2:c.1180dup NP_006713.1:p.Ala394GlyfsTer29
NM_198158.2:c.862dup NP_937801.1:p.Ala288GlyfsTer29
NM_198159.2:c.1183dup NP_937802.1:p.Ala395GlyfsTer29
NM_198177.2:c.1135dup NP_937820.1:p.Ala379GlyfsTer29
NM_198178.2:c.694dup NP_937821.2:p.Ala232GlyfsTer29
XM_005264754.1:c.1201dup XP_005264811.1:p.Ala401GlyfsTer29
XM_005264755.2:c.1153dup XP_005264812.1:p.Ala385GlyfsTer29
XM_006713164.2:c.1045dup XP_006713227.1:p.Ala349GlyfsTer29
XM_011533722.1:c.1198dup XP_011532024.1:p.Ala400GlyfsTer29
XM_011533723.1:c.1150dup XP_011532025.1:p.Ala384GlyfsTer29
XM_011533724.1:c.1045dup XP_011532026.1:p.Ala349GlyfsTer29
XM_011533725.1:c.1033dup XP_011532027.1:p.Ala345GlyfsTer29
XM_011533726.1:c.1015dup XP_011532028.1:p.Ala339GlyfsTer29
NM_001354604.1:c.1201dup NP_001341533.1:p.Ala401GlyfsTer29
NM_001354605.1:c.1198dup NP_001341534.1:p.Ala400GlyfsTer29
NM_001354606.1:c.1180dup NP_001341535.1:p.Ala394GlyfsTer29
NM_001354607.1:c.1132dup NP_001341536.1:p.Ala378GlyfsTer29
NM_001354608.1:c.1027dup NP_001341537.1:p.Ala343GlyfsTer29
NM_001184967.2:c.1027dup NP_001171896.1:p.Ala343GlyfsTer29
NM_001354604.2:c.1201dup MANE Select NP_001341533.1:p.Ala401GlyfsTer29
NM_001354605.2:c.1198dup NP_001341534.1:p.Ala400GlyfsTer29
NM_001354606.2:c.1180dup NP_001341535.1:p.Ala394GlyfsTer29
NM_001354607.2:c.1132dup NP_001341536.1:p.Ala378GlyfsTer29
NM_001354608.2:c.1027dup NP_001341537.1:p.Ala343GlyfsTer29
NM_198158.3:c.862dup NP_937801.1:p.Ala288GlyfsTer29
NM_198159.3:c.1183dup NP_937802.1:p.Ala395GlyfsTer29
NM_198177.3:c.1135dup NP_937820.1:p.Ala379GlyfsTer29
NM_198178.3:c.694dup NP_937821.2:p.Ala232GlyfsTer29
NM_000248.4:c.880dup MANE Plus Clinical NP_000239.1:p.Ala294GlyfsTer29
NM_006722.3:c.1180dup NP_006713.1:p.Ala394GlyfsTer29