Canonical Allele Identifier: CA1373413817
Gene: MITF HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69964837_69964839delinsCTT , CM000665.2:g.69964837_69964839delinsCTT GRCh38
NC_000003.11:g.70013988_70013990delinsCTT , CM000665.1:g.70013988_70013990delinsCTT GRCh37
NC_000003.10:g.70096678_70096680delinsCTT NCBI36
NG_011631.1:g.230356_230358delinsCTT , LRG_776:g.230356_230358delinsCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.1114-10_1114-8delinsCTT ENSP00000324443.5:n.1114-10_1114-8delinsCTT
ENST00000687384.1:c.1111-10_1111-8delinsCTT ENSP00000510225.1:n.1111-10_1111-8delinsCTT
ENST00000689390.1:n.1336-10_1336-8delinsCTT
ENST00000693031.1:c.1087-10_1087-8delinsCTT ENSP00000509845.1:n.1087-10_1087-8delinsCTT
ENST00000693549.1:c.1114-77_1114-75delinsCTT ENSP00000509358.1:n.1114-77_1114-75delinsCTT
ENST00000314589.10:c.1114-10_1114-8delinsCTT ENSP00000324443.5:n.1114-10_1114-8delinsCTT
ENST00000352241.9:c.1180-10_1180-8delinsCTT MANE Select ENSP00000295600.8:n.1180-10_1180-8delinsCTT
ENST00000394351.9:c.859-10_859-8delinsCTT MANE Plus Clinical ENSP00000377880.3:n.859-10_859-8delinsCTT
ENST00000448226.9:c.1159-10_1159-8delinsCTT ENSP00000391803.3:n.1159-10_1159-8delinsCTT
ENST00000642352.1:c.1162-10_1162-8delinsCTT ENSP00000494105.1:n.1162-10_1162-8delinsCTT
ENST00000314557.10:c.841-10_841-8delinsCTT ENSP00000324246.6:n.841-10_841-8delinsCTT
ENST00000314589.9:c.1114-10_1114-8delinsCTT ENSP00000324443.5:n.1114-10_1114-8delinsCTT
ENST00000328528.10:c.1159-10_1159-8delinsCTT ENSP00000327867.6:n.1159-10_1159-8delinsCTT
ENST00000352241.8:c.1162-10_1162-8delinsCTT ENSP00000295600.7:n.1162-10_1162-8delinsCTT
ENST00000394351.7:c.859-10_859-8delinsCTT ENSP00000377880.3:n.859-10_859-8delinsCTT
ENST00000448226.6:c.1180-10_1180-8delinsCTT ENSP00000391803.2:n.1180-10_1180-8delinsCTT
ENST00000472437.5:c.1006-10_1006-8delinsCTT ENSP00000418845.1:n.1006-10_1006-8delinsCTT
ENST00000478490.5:c.*506-10_*506-8delinsCTT ENSP00000433487.1:n.*506-10_*506-8delinsCTT
ENST00000531774.1:c.673-10_673-8delinsCTT ENSP00000435909.1:n.673-10_673-8delinsCTT
NM_000248.3:c.859-10_859-8delinsCTT , LRG_776t1:c.859-10_859-8delinsCTT NP_000239.1:n.859-10_859-8delinsCTT
NM_001184967.1:c.1006-10_1006-8delinsCTT NP_001171896.1:n.1006-10_1006-8delinsCTT
NM_006722.2:c.1159-10_1159-8delinsCTT NP_006713.1:n.1159-10_1159-8delinsCTT
NM_198158.2:c.841-10_841-8delinsCTT NP_937801.1:n.841-10_841-8delinsCTT
NM_198159.2:c.1162-10_1162-8delinsCTT NP_937802.1:n.1162-10_1162-8delinsCTT
NM_198177.2:c.1114-10_1114-8delinsCTT NP_937820.1:n.1114-10_1114-8delinsCTT
NM_198178.2:c.673-10_673-8delinsCTT NP_937821.2:n.673-10_673-8delinsCTT
XM_005264754.1:c.1180-10_1180-8delinsCTT XP_005264811.1:n.1180-10_1180-8delinsCTT
XM_005264755.2:c.1132-10_1132-8delinsCTT XP_005264812.1:n.1132-10_1132-8delinsCTT
XM_006713164.2:c.1024-10_1024-8delinsCTT XP_006713227.1:n.1024-10_1024-8delinsCTT
XM_011533722.1:c.1177-10_1177-8delinsCTT XP_011532024.1:n.1177-10_1177-8delinsCTT
XM_011533723.1:c.1129-10_1129-8delinsCTT XP_011532025.1:n.1129-10_1129-8delinsCTT
XM_011533724.1:c.1024-10_1024-8delinsCTT XP_011532026.1:n.1024-10_1024-8delinsCTT
XM_011533725.1:c.1012-10_1012-8delinsCTT XP_011532027.1:n.1012-10_1012-8delinsCTT
XM_011533726.1:c.994-10_994-8delinsCTT XP_011532028.1:n.994-10_994-8delinsCTT
NM_001354604.1:c.1180-10_1180-8delinsCTT NP_001341533.1:n.1180-10_1180-8delinsCTT
NM_001354605.1:c.1177-10_1177-8delinsCTT NP_001341534.1:n.1177-10_1177-8delinsCTT
NM_001354606.1:c.1159-10_1159-8delinsCTT NP_001341535.1:n.1159-10_1159-8delinsCTT
NM_001354607.1:c.1111-10_1111-8delinsCTT NP_001341536.1:n.1111-10_1111-8delinsCTT
NM_001354608.1:c.1006-10_1006-8delinsCTT NP_001341537.1:n.1006-10_1006-8delinsCTT
NM_001184967.2:c.1006-10_1006-8delinsCTT NP_001171896.1:n.1006-10_1006-8delinsCTT
NM_001354604.2:c.1180-10_1180-8delinsCTT MANE Select NP_001341533.1:n.1180-10_1180-8delinsCTT
NM_001354605.2:c.1177-10_1177-8delinsCTT NP_001341534.1:n.1177-10_1177-8delinsCTT
NM_001354606.2:c.1159-10_1159-8delinsCTT NP_001341535.1:n.1159-10_1159-8delinsCTT
NM_001354607.2:c.1111-10_1111-8delinsCTT NP_001341536.1:n.1111-10_1111-8delinsCTT
NM_001354608.2:c.1006-10_1006-8delinsCTT NP_001341537.1:n.1006-10_1006-8delinsCTT
NM_198158.3:c.841-10_841-8delinsCTT NP_937801.1:n.841-10_841-8delinsCTT
NM_198159.3:c.1162-10_1162-8delinsCTT NP_937802.1:n.1162-10_1162-8delinsCTT
NM_198177.3:c.1114-10_1114-8delinsCTT NP_937820.1:n.1114-10_1114-8delinsCTT
NM_198178.3:c.673-10_673-8delinsCTT NP_937821.2:n.673-10_673-8delinsCTT
NM_000248.4:c.859-10_859-8delinsCTT MANE Plus Clinical NP_000239.1:n.859-10_859-8delinsCTT
NM_006722.3:c.1159-10_1159-8delinsCTT NP_006713.1:n.1159-10_1159-8delinsCTT
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