Canonical Allele Identifier: CA2490378
Community Standard Title: NM_001354604.2(MITF):c.582+22_582+26dup
Gene: MITF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69938071_69938075dup , CM000665.2:g.69938071_69938075dup GRCh38
NC_000003.11:g.69987222_69987226dup , CM000665.1:g.69987222_69987226dup GRCh37
NC_000003.10:g.70069912_70069916dup NCBI36
NG_011631.1:g.203590_203594dup , LRG_776:g.203590_203594dup

Transcript Alleles

HGVS Amino-acid Change
NM_001354604.2:c.582+22_582+26dup MANE Select NP_001341533.1:n.582+22_582+26dup
ENST00000352241.9:c.582+22_582+26dup MANE Select ENSP00000295600.8:n.582+22_582+26dup
NM_000248.4:c.261+22_261+26dup MANE Plus Clinical NP_000239.1:n.261+22_261+26dup
ENST00000394351.9:c.261+22_261+26dup MANE Plus Clinical ENSP00000377880.3:n.261+22_261+26dup
NM_000248.3:c.261+22_261+26dup , LRG_776t1:c.261+22_261+26dup NP_000239.1:n.261+22_261+26dup
NM_001184967.1:c.426+22_426+26dup NP_001171896.1:n.426+22_426+26dup
NM_001184967.2:c.426+22_426+26dup NP_001171896.1:n.426+22_426+26dup
NM_001184968.1:c.261+22_261+26dup NP_001171897.1:n.261+22_261+26dup
NM_001184968.2:c.261+22_261+26dup NP_001171897.1:n.261+22_261+26dup
NM_001354604.1:c.582+22_582+26dup NP_001341533.1:n.582+22_582+26dup
NM_001354605.1:c.579+22_579+26dup NP_001341534.1:n.579+22_579+26dup
NM_001354605.2:c.579+22_579+26dup NP_001341534.1:n.579+22_579+26dup
NM_001354606.1:c.579+22_579+26dup NP_001341535.1:n.579+22_579+26dup
NM_001354606.2:c.579+22_579+26dup NP_001341535.1:n.579+22_579+26dup
NM_001354607.1:c.531+22_531+26dup NP_001341536.1:n.531+22_531+26dup
NM_001354607.2:c.531+22_531+26dup NP_001341536.1:n.531+22_531+26dup
NM_001354608.1:c.426+22_426+26dup NP_001341537.1:n.426+22_426+26dup
NM_001354608.2:c.426+22_426+26dup NP_001341537.1:n.426+22_426+26dup
NM_006722.2:c.579+22_579+26dup NP_006713.1:n.579+22_579+26dup
NM_006722.3:c.579+22_579+26dup NP_006713.1:n.579+22_579+26dup
NM_198158.2:c.261+22_261+26dup NP_937801.1:n.261+22_261+26dup
NM_198158.3:c.261+22_261+26dup NP_937801.1:n.261+22_261+26dup
NM_198159.2:c.582+22_582+26dup NP_937802.1:n.582+22_582+26dup
NM_198159.3:c.582+22_582+26dup NP_937802.1:n.582+22_582+26dup
NM_198177.2:c.534+22_534+26dup NP_937820.1:n.534+22_534+26dup
NM_198177.3:c.534+22_534+26dup NP_937820.1:n.534+22_534+26dup
NM_198178.2:c.93+190_93+194dup NP_937821.2:n.93+190_93+194dup
NM_198178.3:c.93+190_93+194dup NP_937821.2:n.93+190_93+194dup
ENST00000314557.10:c.261+22_261+26dup ENSP00000324246.6:n.261+22_261+26dup
ENST00000314589.10:c.534+22_534+26dup ENSP00000324443.5:n.534+22_534+26dup
ENST00000314589.11:c.534+22_534+26dup ENSP00000324443.5:n.534+22_534+26dup
ENST00000314589.9:c.534+22_534+26dup ENSP00000324443.5:n.534+22_534+26dup
ENST00000328528.10:c.579+22_579+26dup ENSP00000327867.6:n.579+22_579+26dup
ENST00000352241.8:c.582+22_582+26dup ENSP00000295600.7:n.582+22_582+26dup
ENST00000394348.2:c.261+22_261+26dup ENSP00000481286.1:n.261+22_261+26dup
ENST00000394351.7:c.261+22_261+26dup ENSP00000377880.3:n.261+22_261+26dup
ENST00000433517.5:c.258+190_258+194dup ENSP00000411389.1:n.258+190_258+194dup
ENST00000448226.6:c.582+22_582+26dup ENSP00000391803.2:n.582+22_582+26dup
ENST00000448226.9:c.579+22_579+26dup ENSP00000391803.3:n.579+22_579+26dup
ENST00000451708.5:c.534+22_534+26dup ENSP00000398639.1:n.534+22_534+26dup
ENST00000461014.1:n.572+22_572+26dup
ENST00000472437.5:c.426+22_426+26dup ENSP00000418845.1:n.426+22_426+26dup
ENST00000478490.5:c.261+22_261+26dup ENSP00000433487.1:n.261+22_261+26dup
ENST00000531774.1:c.93+190_93+194dup ENSP00000435909.1:n.93+190_93+194dup
ENST00000642352.1:c.582+22_582+26dup ENSP00000494105.1:n.582+22_582+26dup
ENST00000687384.1:c.531+22_531+26dup ENSP00000510225.1:n.531+22_531+26dup
ENST00000689390.1:n.756+22_756+26dup
ENST00000693031.1:c.507+22_507+26dup ENSP00000509845.1:n.507+22_507+26dup
ENST00000693549.1:c.534+22_534+26dup ENSP00000509358.1:n.534+22_534+26dup
XM_005264754.1:c.582+22_582+26dup XP_005264811.1:n.582+22_582+26dup
XM_005264755.2:c.534+22_534+26dup XP_005264812.1:n.534+22_534+26dup
XM_006713164.2:c.426+22_426+26dup XP_006713227.1:n.426+22_426+26dup
XM_011533722.1:c.579+22_579+26dup XP_011532024.1:n.579+22_579+26dup
XM_011533723.1:c.531+22_531+26dup XP_011532025.1:n.531+22_531+26dup
XM_011533724.1:c.426+22_426+26dup XP_011532026.1:n.426+22_426+26dup
XM_011533725.1:c.414+190_414+194dup XP_011532027.1:n.414+190_414+194dup
XM_011533726.1:c.414+190_414+194dup XP_011532028.1:n.414+190_414+194dup