Canonical Allele Identifier: CA2586972643

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69951868_69951869del , CM000665.2:g.69951868_69951869del	GRCh38
NC_000003.11:g.70001019_70001020del , CM000665.1:g.70001019_70001020del	GRCh37
NC_000003.10:g.70083709_70083710del	NCBI36
NG_011631.1:g.217387_217388del , LRG_776:g.217387_217388del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.871_872del	ENSP00000324443.5:p.Lys291GlyfsTer7
ENST00000687384.1:c.868_869del	ENSP00000510225.1:p.Lys290GlyfsTer7
ENST00000689390.1:n.1093_1094del
ENST00000693031.1:c.844_845del	ENSP00000509845.1:p.Lys282GlyfsTer7
ENST00000693549.1:c.871_872del	ENSP00000509358.1:p.Lys291GlyfsTer7
ENST00000314589.10:c.871_872del	ENSP00000324443.5:p.Lys291GlyfsTer7
ENST00000352241.9:c.937_938del MANE Select	ENSP00000295600.8:p.Lys313GlyfsTer7
ENST00000394351.9:c.616_617del MANE Plus Clinical	ENSP00000377880.3:p.Lys206GlyfsTer7
ENST00000448226.9:c.916_917del	ENSP00000391803.3:p.Lys306GlyfsTer7
ENST00000642352.1:c.919_920del	ENSP00000494105.1:p.Lys307GlyfsTer7
ENST00000314557.10:c.598_599del	ENSP00000324246.6:p.Lys200GlyfsTer7
ENST00000314589.9:c.871_872del	ENSP00000324443.5:p.Lys291GlyfsTer7
ENST00000328528.10:c.916_917del	ENSP00000327867.6:p.Lys306GlyfsTer7
ENST00000352241.8:c.919_920del	ENSP00000295600.7:p.Lys307GlyfsTer7
ENST00000394351.7:c.616_617del	ENSP00000377880.3:p.Lys206GlyfsTer7
ENST00000448226.6:c.937_938del	ENSP00000391803.2:p.Lys313GlyfsTer7
ENST00000451708.5:c.889_890del	ENSP00000398639.1:p.Lys297GlyfsTer7
ENST00000472437.5:c.763_764del	ENSP00000418845.1:p.Lys255GlyfsTer7
ENST00000478490.5:c.*263_*264del	ENSP00000433487.1:n.*263_*264del
ENST00000531774.1:c.430_431del	ENSP00000435909.1:p.Lys144GlyfsTer7
NM_000248.3:c.616_617del , LRG_776t1:c.616_617del	NP_000239.1:p.Lys206GlyfsTer7
NM_001184967.1:c.763_764del	NP_001171896.1:p.Lys255GlyfsTer7
NM_006722.2:c.916_917del	NP_006713.1:p.Lys306GlyfsTer7
NM_198158.2:c.598_599del	NP_937801.1:p.Lys200GlyfsTer7
NM_198159.2:c.919_920del	NP_937802.1:p.Lys307GlyfsTer7
NM_198177.2:c.871_872del	NP_937820.1:p.Lys291GlyfsTer7
NM_198178.2:c.430_431del	NP_937821.2:p.Lys144GlyfsTer7
XM_005264754.1:c.937_938del	XP_005264811.1:p.Lys313GlyfsTer7
XM_005264755.2:c.889_890del	XP_005264812.1:p.Lys297GlyfsTer7
XM_006713164.2:c.781_782del	XP_006713227.1:p.Lys261GlyfsTer7
XM_011533722.1:c.934_935del	XP_011532024.1:p.Lys312GlyfsTer7
XM_011533723.1:c.886_887del	XP_011532025.1:p.Lys296GlyfsTer7
XM_011533724.1:c.781_782del	XP_011532026.1:p.Lys261GlyfsTer7
XM_011533725.1:c.769_770del	XP_011532027.1:p.Lys257GlyfsTer7
XM_011533726.1:c.751_752del	XP_011532028.1:p.Lys251GlyfsTer7
NM_001354604.1:c.937_938del	NP_001341533.1:p.Lys313GlyfsTer7
NM_001354605.1:c.934_935del	NP_001341534.1:p.Lys312GlyfsTer7
NM_001354606.1:c.916_917del	NP_001341535.1:p.Lys306GlyfsTer7
NM_001354607.1:c.868_869del	NP_001341536.1:p.Lys290GlyfsTer7
NM_001354608.1:c.763_764del	NP_001341537.1:p.Lys255GlyfsTer7
NM_001184967.2:c.763_764del	NP_001171896.1:p.Lys255GlyfsTer7
NM_001354604.2:c.937_938del MANE Select	NP_001341533.1:p.Lys313GlyfsTer7
NM_001354605.2:c.934_935del	NP_001341534.1:p.Lys312GlyfsTer7
NM_001354606.2:c.916_917del	NP_001341535.1:p.Lys306GlyfsTer7
NM_001354607.2:c.868_869del	NP_001341536.1:p.Lys290GlyfsTer7
NM_001354608.2:c.763_764del	NP_001341537.1:p.Lys255GlyfsTer7
NM_198158.3:c.598_599del	NP_937801.1:p.Lys200GlyfsTer7
NM_198159.3:c.919_920del	NP_937802.1:p.Lys307GlyfsTer7
NM_198177.3:c.871_872del	NP_937820.1:p.Lys291GlyfsTer7
NM_198178.3:c.430_431del	NP_937821.2:p.Lys144GlyfsTer7
NM_000248.4:c.616_617del MANE Plus Clinical	NP_000239.1:p.Lys206GlyfsTer7
NM_006722.3:c.916_917del	NP_006713.1:p.Lys306GlyfsTer7