Canonical Allele Identifier: CA1373413889
Gene: MITF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69964873_69964874delinsTG , CM000665.2:g.69964873_69964874delinsTG GRCh38
NC_000003.11:g.70014024_70014025delinsTG , CM000665.1:g.70014024_70014025delinsTG GRCh37
NC_000003.10:g.70096714_70096715delinsTG NCBI36
NG_011631.1:g.230392_230393delinsTG , LRG_776:g.230392_230393delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.1140_1141delinsTG ENSP00000324443.5:p.His380=
ENST00000687384.1:c.1137_1138delinsTG ENSP00000510225.1:p.His379=
ENST00000689390.1:n.1362_1363delinsTG
ENST00000693031.1:c.1113_1114delinsTG ENSP00000509845.1:p.His371=
ENST00000693549.1:c.1114-41_1114-40delinsTG ENSP00000509358.1:n.1114-41_1114-40delinsTG
ENST00000314589.10:c.1140_1141delinsTG ENSP00000324443.5:p.His380=
ENST00000352241.9:c.1206_1207delinsTG MANE Select ENSP00000295600.8:p.His402=
ENST00000394351.9:c.885_886delinsTG MANE Plus Clinical ENSP00000377880.3:p.His295=
ENST00000448226.9:c.1185_1186delinsTG ENSP00000391803.3:p.His395=
ENST00000642352.1:c.1188_1189delinsTG ENSP00000494105.1:p.His396=
ENST00000314557.10:c.867_868delinsTG ENSP00000324246.6:p.His289=
ENST00000314589.9:c.1140_1141delinsTG ENSP00000324443.5:p.His380=
ENST00000328528.10:c.1185_1186delinsTG ENSP00000327867.6:p.His395=
ENST00000352241.8:c.1188_1189delinsTG ENSP00000295600.7:p.His396=
ENST00000394351.7:c.885_886delinsTG ENSP00000377880.3:p.His295=
ENST00000448226.6:c.1206_1207delinsTG ENSP00000391803.2:p.His402=
ENST00000472437.5:c.1032_1033delinsTG ENSP00000418845.1:p.His344=
ENST00000478490.5:c.*532_*533delinsTG ENSP00000433487.1:n.*532_*533delinsTG
ENST00000531774.1:c.699_700delinsTG ENSP00000435909.1:p.His233=
NM_000248.3:c.885_886delinsTG , LRG_776t1:c.885_886delinsTG NP_000239.1:p.His295=
NM_001184967.1:c.1032_1033delinsTG NP_001171896.1:p.His344=
NM_006722.2:c.1185_1186delinsTG NP_006713.1:p.His395=
NM_198158.2:c.867_868delinsTG NP_937801.1:p.His289=
NM_198159.2:c.1188_1189delinsTG NP_937802.1:p.His396=
NM_198177.2:c.1140_1141delinsTG NP_937820.1:p.His380=
NM_198178.2:c.699_700delinsTG NP_937821.2:p.His233=
XM_005264754.1:c.1206_1207delinsTG XP_005264811.1:p.His402=
XM_005264755.2:c.1158_1159delinsTG XP_005264812.1:p.His386=
XM_006713164.2:c.1050_1051delinsTG XP_006713227.1:p.His350=
XM_011533722.1:c.1203_1204delinsTG XP_011532024.1:p.His401=
XM_011533723.1:c.1155_1156delinsTG XP_011532025.1:p.His385=
XM_011533724.1:c.1050_1051delinsTG XP_011532026.1:p.His350=
XM_011533725.1:c.1038_1039delinsTG XP_011532027.1:p.His346=
XM_011533726.1:c.1020_1021delinsTG XP_011532028.1:p.His340=
NM_001354604.1:c.1206_1207delinsTG NP_001341533.1:p.His402=
NM_001354605.1:c.1203_1204delinsTG NP_001341534.1:p.His401=
NM_001354606.1:c.1185_1186delinsTG NP_001341535.1:p.His395=
NM_001354607.1:c.1137_1138delinsTG NP_001341536.1:p.His379=
NM_001354608.1:c.1032_1033delinsTG NP_001341537.1:p.His344=
NM_001184967.2:c.1032_1033delinsTG NP_001171896.1:p.His344=
NM_001354604.2:c.1206_1207delinsTG MANE Select NP_001341533.1:p.His402=
NM_001354605.2:c.1203_1204delinsTG NP_001341534.1:p.His401=
NM_001354606.2:c.1185_1186delinsTG NP_001341535.1:p.His395=
NM_001354607.2:c.1137_1138delinsTG NP_001341536.1:p.His379=
NM_001354608.2:c.1032_1033delinsTG NP_001341537.1:p.His344=
NM_198158.3:c.867_868delinsTG NP_937801.1:p.His289=
NM_198159.3:c.1188_1189delinsTG NP_937802.1:p.His396=
NM_198177.3:c.1140_1141delinsTG NP_937820.1:p.His380=
NM_198178.3:c.699_700delinsTG NP_937821.2:p.His233=
NM_000248.4:c.885_886delinsTG MANE Plus Clinical NP_000239.1:p.His295=
NM_006722.3:c.1185_1186delinsTG NP_006713.1:p.His395=