Canonical Allele Identifier: CA1139658160

Gene: MITF

Linked Data

• ClinVar Variation Id: 872078
• ClinVar RCV Id: RCV001092348
• dbSNP Id: rs2066649828

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69964998_69965010dup , CM000665.2:g.69964998_69965010dup	GRCh38
NC_000003.11:g.70014149_70014161dup , CM000665.1:g.70014149_70014161dup	GRCh37
NC_000003.10:g.70096839_70096851dup	NCBI36
NG_011631.1:g.230517_230529dup , LRG_776:g.230517_230529dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1265_1277dup	ENSP00000324443.5:p.Asp427TyrfsTer22
ENST00000687384.1:c.1262_1274dup	ENSP00000510225.1:p.Asp426TyrfsTer22
ENST00000689390.1:n.1487_1499dup
ENST00000693031.1:c.1238_1250dup	ENSP00000509845.1:p.Asp418TyrfsTer22
ENST00000693549.1:c.*76_*88dup	ENSP00000509358.1:n.*76_*88dup
ENST00000314589.10:c.1265_1277dup	ENSP00000324443.5:p.Asp427TyrfsTer22
ENST00000352241.9:c.1331_1343dup MANE Select	ENSP00000295600.8:p.Asp449TyrfsTer22
ENST00000394351.9:c.1010_1022dup MANE Plus Clinical	ENSP00000377880.3:p.Asp342TyrfsTer22
ENST00000448226.9:c.1310_1322dup	ENSP00000391803.3:p.Asp442TyrfsTer22
ENST00000642352.1:c.1313_1325dup	ENSP00000494105.1:p.Asp443TyrfsTer22
ENST00000314557.10:c.992_1004dup	ENSP00000324246.6:p.Asp336TyrfsTer22
ENST00000314589.9:c.1265_1277dup	ENSP00000324443.5:p.Asp427TyrfsTer22
ENST00000328528.10:c.1310_1322dup	ENSP00000327867.6:p.Asp442TyrfsTer22
ENST00000352241.8:c.1313_1325dup	ENSP00000295600.7:p.Asp443TyrfsTer22
ENST00000394351.7:c.1010_1022dup	ENSP00000377880.3:p.Asp342TyrfsTer22
ENST00000448226.6:c.1331_1343dup	ENSP00000391803.2:p.Asp449TyrfsTer22
ENST00000472437.5:c.1157_1169dup	ENSP00000418845.1:p.Asp391TyrfsTer22
ENST00000478490.5:c.*657_*669dup	ENSP00000433487.1:n.*657_*669dup
ENST00000531774.1:c.824_836dup	ENSP00000435909.1:p.Asp280TyrfsTer22
NM_000248.3:c.1010_1022dup , LRG_776t1:c.1010_1022dup	NP_000239.1:p.Asp342TyrfsTer22
NM_001184967.1:c.1157_1169dup	NP_001171896.1:p.Asp391TyrfsTer22
NM_006722.2:c.1310_1322dup	NP_006713.1:p.Asp442TyrfsTer22
NM_198158.2:c.992_1004dup	NP_937801.1:p.Asp336TyrfsTer22
NM_198159.2:c.1313_1325dup	NP_937802.1:p.Asp443TyrfsTer22
NM_198177.2:c.1265_1277dup	NP_937820.1:p.Asp427TyrfsTer22
NM_198178.2:c.824_836dup	NP_937821.2:p.Asp280TyrfsTer22
XM_005264754.1:c.1331_1343dup	XP_005264811.1:p.Asp449TyrfsTer22
XM_005264755.2:c.1283_1295dup	XP_005264812.1:p.Asp433TyrfsTer22
XM_006713164.2:c.1175_1187dup	XP_006713227.1:p.Asp397TyrfsTer22
XM_011533722.1:c.1328_1340dup	XP_011532024.1:p.Asp448TyrfsTer22
XM_011533723.1:c.1280_1292dup	XP_011532025.1:p.Asp432TyrfsTer22
XM_011533724.1:c.1175_1187dup	XP_011532026.1:p.Asp397TyrfsTer22
XM_011533725.1:c.1163_1175dup	XP_011532027.1:p.Asp393TyrfsTer22
XM_011533726.1:c.1145_1157dup	XP_011532028.1:p.Asp387TyrfsTer22
NM_001354604.1:c.1331_1343dup	NP_001341533.1:p.Asp449TyrfsTer22
NM_001354605.1:c.1328_1340dup	NP_001341534.1:p.Asp448TyrfsTer22
NM_001354606.1:c.1310_1322dup	NP_001341535.1:p.Asp442TyrfsTer22
NM_001354607.1:c.1262_1274dup	NP_001341536.1:p.Asp426TyrfsTer22
NM_001354608.1:c.1157_1169dup	NP_001341537.1:p.Asp391TyrfsTer22
NM_001184967.2:c.1157_1169dup	NP_001171896.1:p.Asp391TyrfsTer22
NM_001354604.2:c.1331_1343dup MANE Select	NP_001341533.1:p.Asp449TyrfsTer22
NM_001354605.2:c.1328_1340dup	NP_001341534.1:p.Asp448TyrfsTer22
NM_001354606.2:c.1310_1322dup	NP_001341535.1:p.Asp442TyrfsTer22
NM_001354607.2:c.1262_1274dup	NP_001341536.1:p.Asp426TyrfsTer22
NM_001354608.2:c.1157_1169dup	NP_001341537.1:p.Asp391TyrfsTer22
NM_198158.3:c.992_1004dup	NP_937801.1:p.Asp336TyrfsTer22
NM_198159.3:c.1313_1325dup	NP_937802.1:p.Asp443TyrfsTer22
NM_198177.3:c.1265_1277dup	NP_937820.1:p.Asp427TyrfsTer22
NM_198178.3:c.824_836dup	NP_937821.2:p.Asp280TyrfsTer22
NM_000248.4:c.1010_1022dup MANE Plus Clinical	NP_000239.1:p.Asp342TyrfsTer22
NM_006722.3:c.1310_1322dup	NP_006713.1:p.Asp442TyrfsTer22