Canonical Allele Identifier: CA2586972642

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69949150dup , CM000665.2:g.69949150dup	GRCh38
NC_000003.11:g.69998301dup , CM000665.1:g.69998301dup	GRCh37
NC_000003.10:g.70080991dup	NCBI36
NG_011631.1:g.214669dup , LRG_776:g.214669dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.814dup	ENSP00000324443.5:p.Ile272AsnfsTer9
ENST00000687384.1:c.811dup	ENSP00000510225.1:p.Ile271AsnfsTer9
ENST00000689390.1:n.1036dup
ENST00000693031.1:c.787dup	ENSP00000509845.1:p.Ile263AsnfsTer9
ENST00000693549.1:c.814dup	ENSP00000509358.1:p.Ile272AsnfsTer9
ENST00000314589.10:c.814dup	ENSP00000324443.5:p.Ile272AsnfsTer9
ENST00000352241.9:c.862dup MANE Select	ENSP00000295600.8:p.Ile288AsnfsTer15
ENST00000394351.9:c.541dup MANE Plus Clinical	ENSP00000377880.3:p.Ile181AsnfsTer15
ENST00000448226.9:c.859dup	ENSP00000391803.3:p.Ile287AsnfsTer9
ENST00000642352.1:c.862dup	ENSP00000494105.1:p.Ile288AsnfsTer9
ENST00000314557.10:c.541dup	ENSP00000324246.6:p.Ile181AsnfsTer9
ENST00000314589.9:c.814dup	ENSP00000324443.5:p.Ile272AsnfsTer9
ENST00000328528.10:c.859dup	ENSP00000327867.6:p.Ile287AsnfsTer9
ENST00000352241.8:c.862dup	ENSP00000295600.7:p.Ile288AsnfsTer9
ENST00000394351.7:c.541dup	ENSP00000377880.3:p.Ile181AsnfsTer15
ENST00000448226.6:c.862dup	ENSP00000391803.2:p.Ile288AsnfsTer15
ENST00000451708.5:c.814dup	ENSP00000398639.1:p.Ile272AsnfsTer15
ENST00000472437.5:c.706dup	ENSP00000418845.1:p.Ile236AsnfsTer9
ENST00000478490.5:c.*188dup	ENSP00000433487.1:n.*188dup
ENST00000531774.1:c.373dup	ENSP00000435909.1:p.Ile125AsnfsTer9
NM_000248.3:c.541dup , LRG_776t1:c.541dup	NP_000239.1:p.Ile181AsnfsTer15
NM_001184967.1:c.706dup	NP_001171896.1:p.Ile236AsnfsTer9
NM_006722.2:c.859dup	NP_006713.1:p.Ile287AsnfsTer9
NM_198158.2:c.541dup	NP_937801.1:p.Ile181AsnfsTer9
NM_198159.2:c.862dup	NP_937802.1:p.Ile288AsnfsTer9
NM_198177.2:c.814dup	NP_937820.1:p.Ile272AsnfsTer9
NM_198178.2:c.373dup	NP_937821.2:p.Ile125AsnfsTer9
XM_005264754.1:c.862dup	XP_005264811.1:p.Ile288AsnfsTer15
XM_005264755.2:c.814dup	XP_005264812.1:p.Ile272AsnfsTer15
XM_006713164.2:c.706dup	XP_006713227.1:p.Ile236AsnfsTer15
XM_011533722.1:c.859dup	XP_011532024.1:p.Ile287AsnfsTer15
XM_011533723.1:c.811dup	XP_011532025.1:p.Ile271AsnfsTer15
XM_011533724.1:c.706dup	XP_011532026.1:p.Ile236AsnfsTer15
XM_011533725.1:c.694dup	XP_011532027.1:p.Ile232AsnfsTer15
XM_011533726.1:c.694dup	XP_011532028.1:p.Ile232AsnfsTer9
NM_001354604.1:c.862dup	NP_001341533.1:p.Ile288AsnfsTer15
NM_001354605.1:c.859dup	NP_001341534.1:p.Ile287AsnfsTer15
NM_001354606.1:c.859dup	NP_001341535.1:p.Ile287AsnfsTer9
NM_001354607.1:c.811dup	NP_001341536.1:p.Ile271AsnfsTer9
NM_001354608.1:c.706dup	NP_001341537.1:p.Ile236AsnfsTer9
NM_001184967.2:c.706dup	NP_001171896.1:p.Ile236AsnfsTer9
NM_001354604.2:c.862dup MANE Select	NP_001341533.1:p.Ile288AsnfsTer15
NM_001354605.2:c.859dup	NP_001341534.1:p.Ile287AsnfsTer15
NM_001354606.2:c.859dup	NP_001341535.1:p.Ile287AsnfsTer9
NM_001354607.2:c.811dup	NP_001341536.1:p.Ile271AsnfsTer9
NM_001354608.2:c.706dup	NP_001341537.1:p.Ile236AsnfsTer9
NM_198158.3:c.541dup	NP_937801.1:p.Ile181AsnfsTer9
NM_198159.3:c.862dup	NP_937802.1:p.Ile288AsnfsTer9
NM_198177.3:c.814dup	NP_937820.1:p.Ile272AsnfsTer9
NM_198178.3:c.373dup	NP_937821.2:p.Ile125AsnfsTer9
NM_000248.4:c.541dup MANE Plus Clinical	NP_000239.1:p.Ile181AsnfsTer15
NM_006722.3:c.859dup	NP_006713.1:p.Ile287AsnfsTer9