Canonical Allele Identifier: CA1373413770
Gene: MITF HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69964812_69964817delinsCCTATT , CM000665.2:g.69964812_69964817delinsCCTATT GRCh38
NC_000003.11:g.70013963_70013968delinsCCTATT , CM000665.1:g.70013963_70013968delinsCCTATT GRCh37
NC_000003.10:g.70096653_70096658delinsCCTATT NCBI36
NG_011631.1:g.230331_230336delinsCCTATT , LRG_776:g.230331_230336delinsCCTATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.1114-35_1114-30delinsCCTATT ENSP00000324443.5:n.1114-35_1114-30delinsCCTATT
ENST00000687384.1:c.1111-35_1111-30delinsCCTATT ENSP00000510225.1:n.1111-35_1111-30delinsCCTATT
ENST00000689390.1:n.1336-35_1336-30delinsCCTATT
ENST00000693031.1:c.1087-35_1087-30delinsCCTATT ENSP00000509845.1:n.1087-35_1087-30delinsCCTATT
ENST00000693549.1:c.1114-102_1114-97delinsCCTATT ENSP00000509358.1:n.1114-102_1114-97delinsCCTATT
ENST00000314589.10:c.1114-35_1114-30delinsCCTATT ENSP00000324443.5:n.1114-35_1114-30delinsCCTATT
ENST00000352241.9:c.1180-35_1180-30delinsCCTATT MANE Select ENSP00000295600.8:n.1180-35_1180-30delinsCCTATT
ENST00000394351.9:c.859-35_859-30delinsCCTATT MANE Plus Clinical ENSP00000377880.3:n.859-35_859-30delinsCCTATT
ENST00000448226.9:c.1159-35_1159-30delinsCCTATT ENSP00000391803.3:n.1159-35_1159-30delinsCCTATT
ENST00000642352.1:c.1162-35_1162-30delinsCCTATT ENSP00000494105.1:n.1162-35_1162-30delinsCCTATT
ENST00000314557.10:c.841-35_841-30delinsCCTATT ENSP00000324246.6:n.841-35_841-30delinsCCTATT
ENST00000314589.9:c.1114-35_1114-30delinsCCTATT ENSP00000324443.5:n.1114-35_1114-30delinsCCTATT
ENST00000328528.10:c.1159-35_1159-30delinsCCTATT ENSP00000327867.6:n.1159-35_1159-30delinsCCTATT
ENST00000352241.8:c.1162-35_1162-30delinsCCTATT ENSP00000295600.7:n.1162-35_1162-30delinsCCTATT
ENST00000394351.7:c.859-35_859-30delinsCCTATT ENSP00000377880.3:n.859-35_859-30delinsCCTATT
ENST00000448226.6:c.1180-35_1180-30delinsCCTATT ENSP00000391803.2:n.1180-35_1180-30delinsCCTATT
ENST00000472437.5:c.1006-35_1006-30delinsCCTATT ENSP00000418845.1:n.1006-35_1006-30delinsCCTATT
ENST00000478490.5:c.*506-35_*506-30delinsCCTATT ENSP00000433487.1:n.*506-35_*506-30delinsCCTATT
ENST00000531774.1:c.673-35_673-30delinsCCTATT ENSP00000435909.1:n.673-35_673-30delinsCCTATT
NM_000248.3:c.859-35_859-30delinsCCTATT , LRG_776t1:c.859-35_859-30delinsCCTATT NP_000239.1:n.859-35_859-30delinsCCTATT
NM_001184967.1:c.1006-35_1006-30delinsCCTATT NP_001171896.1:n.1006-35_1006-30delinsCCTATT
NM_006722.2:c.1159-35_1159-30delinsCCTATT NP_006713.1:n.1159-35_1159-30delinsCCTATT
NM_198158.2:c.841-35_841-30delinsCCTATT NP_937801.1:n.841-35_841-30delinsCCTATT
NM_198159.2:c.1162-35_1162-30delinsCCTATT NP_937802.1:n.1162-35_1162-30delinsCCTATT
NM_198177.2:c.1114-35_1114-30delinsCCTATT NP_937820.1:n.1114-35_1114-30delinsCCTATT
NM_198178.2:c.673-35_673-30delinsCCTATT NP_937821.2:n.673-35_673-30delinsCCTATT
XM_005264754.1:c.1180-35_1180-30delinsCCTATT XP_005264811.1:n.1180-35_1180-30delinsCCTATT
XM_005264755.2:c.1132-35_1132-30delinsCCTATT XP_005264812.1:n.1132-35_1132-30delinsCCTATT
XM_006713164.2:c.1024-35_1024-30delinsCCTATT XP_006713227.1:n.1024-35_1024-30delinsCCTATT
XM_011533722.1:c.1177-35_1177-30delinsCCTATT XP_011532024.1:n.1177-35_1177-30delinsCCTATT
XM_011533723.1:c.1129-35_1129-30delinsCCTATT XP_011532025.1:n.1129-35_1129-30delinsCCTATT
XM_011533724.1:c.1024-35_1024-30delinsCCTATT XP_011532026.1:n.1024-35_1024-30delinsCCTATT
XM_011533725.1:c.1012-35_1012-30delinsCCTATT XP_011532027.1:n.1012-35_1012-30delinsCCTATT
XM_011533726.1:c.994-35_994-30delinsCCTATT XP_011532028.1:n.994-35_994-30delinsCCTATT
NM_001354604.1:c.1180-35_1180-30delinsCCTATT NP_001341533.1:n.1180-35_1180-30delinsCCTATT
NM_001354605.1:c.1177-35_1177-30delinsCCTATT NP_001341534.1:n.1177-35_1177-30delinsCCTATT
NM_001354606.1:c.1159-35_1159-30delinsCCTATT NP_001341535.1:n.1159-35_1159-30delinsCCTATT
NM_001354607.1:c.1111-35_1111-30delinsCCTATT NP_001341536.1:n.1111-35_1111-30delinsCCTATT
NM_001354608.1:c.1006-35_1006-30delinsCCTATT NP_001341537.1:n.1006-35_1006-30delinsCCTATT
NM_001184967.2:c.1006-35_1006-30delinsCCTATT NP_001171896.1:n.1006-35_1006-30delinsCCTATT
NM_001354604.2:c.1180-35_1180-30delinsCCTATT MANE Select NP_001341533.1:n.1180-35_1180-30delinsCCTATT
NM_001354605.2:c.1177-35_1177-30delinsCCTATT NP_001341534.1:n.1177-35_1177-30delinsCCTATT
NM_001354606.2:c.1159-35_1159-30delinsCCTATT NP_001341535.1:n.1159-35_1159-30delinsCCTATT
NM_001354607.2:c.1111-35_1111-30delinsCCTATT NP_001341536.1:n.1111-35_1111-30delinsCCTATT
NM_001354608.2:c.1006-35_1006-30delinsCCTATT NP_001341537.1:n.1006-35_1006-30delinsCCTATT
NM_198158.3:c.841-35_841-30delinsCCTATT NP_937801.1:n.841-35_841-30delinsCCTATT
NM_198159.3:c.1162-35_1162-30delinsCCTATT NP_937802.1:n.1162-35_1162-30delinsCCTATT
NM_198177.3:c.1114-35_1114-30delinsCCTATT NP_937820.1:n.1114-35_1114-30delinsCCTATT
NM_198178.3:c.673-35_673-30delinsCCTATT NP_937821.2:n.673-35_673-30delinsCCTATT
NM_000248.4:c.859-35_859-30delinsCCTATT MANE Plus Clinical NP_000239.1:n.859-35_859-30delinsCCTATT
NM_006722.3:c.1159-35_1159-30delinsCCTATT NP_006713.1:n.1159-35_1159-30delinsCCTATT
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