Canonical Allele Identifier: CA2666480941

Gene: MITF

Linked Data

• gnomAD v4: 3-69965020-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965020_69965021insA , CM000665.2:g.69965020_69965021insA	GRCh38
NC_000003.11:g.70014171_70014172insA , CM000665.1:g.70014171_70014172insA	GRCh37
NC_000003.10:g.70096861_70096862insA	NCBI36
NG_011631.1:g.230539_230540insA , LRG_776:g.230539_230540insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1287_1288insA	ENSP00000324443.5:p.Asp430ArgfsTer15
ENST00000687384.1:c.1284_1285insA	ENSP00000510225.1:p.Asp429ArgfsTer15
ENST00000689390.1:n.1509_1510insA
ENST00000693031.1:c.1260_1261insA	ENSP00000509845.1:p.Asp421ArgfsTer15
ENST00000693549.1:c.*98_*99insA	ENSP00000509358.1:n.*98_*99insA
ENST00000314589.10:c.1287_1288insA	ENSP00000324443.5:p.Asp430ArgfsTer15
ENST00000352241.9:c.1353_1354insA MANE Select	ENSP00000295600.8:p.Asp452ArgfsTer15
ENST00000394351.9:c.1032_1033insA MANE Plus Clinical	ENSP00000377880.3:p.Asp345ArgfsTer15
ENST00000448226.9:c.1332_1333insA	ENSP00000391803.3:p.Asp445ArgfsTer15
ENST00000642352.1:c.1335_1336insA	ENSP00000494105.1:p.Asp446ArgfsTer15
ENST00000314557.10:c.1014_1015insA	ENSP00000324246.6:p.Asp339ArgfsTer15
ENST00000314589.9:c.1287_1288insA	ENSP00000324443.5:p.Asp430ArgfsTer15
ENST00000328528.10:c.1332_1333insA	ENSP00000327867.6:p.Asp445ArgfsTer15
ENST00000352241.8:c.1335_1336insA	ENSP00000295600.7:p.Asp446ArgfsTer15
ENST00000394351.7:c.1032_1033insA	ENSP00000377880.3:p.Asp345ArgfsTer15
ENST00000448226.6:c.1353_1354insA	ENSP00000391803.2:p.Asp452ArgfsTer15
ENST00000472437.5:c.1179_1180insA	ENSP00000418845.1:p.Asp394ArgfsTer15
ENST00000478490.5:c.*679_*680insA	ENSP00000433487.1:n.*679_*680insA
ENST00000531774.1:c.846_847insA	ENSP00000435909.1:p.Asp283ArgfsTer15
NM_000248.3:c.1032_1033insA , LRG_776t1:c.1032_1033insA	NP_000239.1:p.Asp345ArgfsTer15
NM_001184967.1:c.1179_1180insA	NP_001171896.1:p.Asp394ArgfsTer15
NM_006722.2:c.1332_1333insA	NP_006713.1:p.Asp445ArgfsTer15
NM_198158.2:c.1014_1015insA	NP_937801.1:p.Asp339ArgfsTer15
NM_198159.2:c.1335_1336insA	NP_937802.1:p.Asp446ArgfsTer15
NM_198177.2:c.1287_1288insA	NP_937820.1:p.Asp430ArgfsTer15
NM_198178.2:c.846_847insA	NP_937821.2:p.Asp283ArgfsTer15
XM_005264754.1:c.1353_1354insA	XP_005264811.1:p.Asp452ArgfsTer15
XM_005264755.2:c.1305_1306insA	XP_005264812.1:p.Asp436ArgfsTer15
XM_006713164.2:c.1197_1198insA	XP_006713227.1:p.Asp400ArgfsTer15
XM_011533722.1:c.1350_1351insA	XP_011532024.1:p.Asp451ArgfsTer15
XM_011533723.1:c.1302_1303insA	XP_011532025.1:p.Asp435ArgfsTer15
XM_011533724.1:c.1197_1198insA	XP_011532026.1:p.Asp400ArgfsTer15
XM_011533725.1:c.1185_1186insA	XP_011532027.1:p.Asp396ArgfsTer15
XM_011533726.1:c.1167_1168insA	XP_011532028.1:p.Asp390ArgfsTer15
NM_001354604.1:c.1353_1354insA	NP_001341533.1:p.Asp452ArgfsTer15
NM_001354605.1:c.1350_1351insA	NP_001341534.1:p.Asp451ArgfsTer15
NM_001354606.1:c.1332_1333insA	NP_001341535.1:p.Asp445ArgfsTer15
NM_001354607.1:c.1284_1285insA	NP_001341536.1:p.Asp429ArgfsTer15
NM_001354608.1:c.1179_1180insA	NP_001341537.1:p.Asp394ArgfsTer15
NM_001184967.2:c.1179_1180insA	NP_001171896.1:p.Asp394ArgfsTer15
NM_001354604.2:c.1353_1354insA MANE Select	NP_001341533.1:p.Asp452ArgfsTer15
NM_001354605.2:c.1350_1351insA	NP_001341534.1:p.Asp451ArgfsTer15
NM_001354606.2:c.1332_1333insA	NP_001341535.1:p.Asp445ArgfsTer15
NM_001354607.2:c.1284_1285insA	NP_001341536.1:p.Asp429ArgfsTer15
NM_001354608.2:c.1179_1180insA	NP_001341537.1:p.Asp394ArgfsTer15
NM_198158.3:c.1014_1015insA	NP_937801.1:p.Asp339ArgfsTer15
NM_198159.3:c.1335_1336insA	NP_937802.1:p.Asp446ArgfsTer15
NM_198177.3:c.1287_1288insA	NP_937820.1:p.Asp430ArgfsTer15
NM_198178.3:c.846_847insA	NP_937821.2:p.Asp283ArgfsTer15
NM_000248.4:c.1032_1033insA MANE Plus Clinical	NP_000239.1:p.Asp345ArgfsTer15
NM_006722.3:c.1332_1333insA	NP_006713.1:p.Asp445ArgfsTer15