Canonical Allele Identifier: CA2586972646

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69956469del , CM000665.2:g.69956469del	GRCh38
NC_000003.11:g.70005620del , CM000665.1:g.70005620del	GRCh37
NC_000003.10:g.70088310del	NCBI36
NG_011631.1:g.221988del , LRG_776:g.221988del

Transcript Alleles

HGVS	Amino-acid change
ENST00000314589.11:c.904del	ENSP00000324443.5:p.Arg302AspfsTer4
ENST00000687384.1:c.901del	ENSP00000510225.1:p.Arg301AspfsTer4
ENST00000689390.1:n.1126del
ENST00000693031.1:c.877del	ENSP00000509845.1:p.Arg293AspfsTer4
ENST00000693549.1:c.904del	ENSP00000509358.1:p.Arg302AspfsTer4
ENST00000314589.10:c.904del	ENSP00000324443.5:p.Arg302AspfsTer4
ENST00000352241.9:c.970del MANE Select	ENSP00000295600.8:p.Arg324AspfsTer4
ENST00000394351.9:c.649del MANE Plus Clinical	ENSP00000377880.3:p.Arg217AspfsTer4
ENST00000448226.9:c.949del	ENSP00000391803.3:p.Arg317AspfsTer4
ENST00000642352.1:c.952del	ENSP00000494105.1:p.Arg318AspfsTer4
ENST00000314557.10:c.631del	ENSP00000324246.6:p.Arg211AspfsTer4
ENST00000314589.9:c.904del	ENSP00000324443.5:p.Arg302AspfsTer4
ENST00000328528.10:c.949del	ENSP00000327867.6:p.Arg317AspfsTer4
ENST00000352241.8:c.952del	ENSP00000295600.7:p.Arg318AspfsTer4
ENST00000394351.7:c.649del	ENSP00000377880.3:p.Arg217AspfsTer4
ENST00000448226.6:c.970del	ENSP00000391803.2:p.Arg324AspfsTer4
ENST00000451708.5:c.922del	ENSP00000398639.1:p.Arg308AspfsTer4
ENST00000472437.5:c.796del	ENSP00000418845.1:p.Arg266AspfsTer4
ENST00000478490.5:c.*296del	ENSP00000433487.1:n.*296del
ENST00000531774.1:c.463del	ENSP00000435909.1:p.Arg155AspfsTer4
NM_000248.3:c.649del , LRG_776t1:c.649del	NP_000239.1:p.Arg217AspfsTer4
NM_001184967.1:c.796del	NP_001171896.1:p.Arg266AspfsTer4
NM_006722.2:c.949del	NP_006713.1:p.Arg317AspfsTer4
NM_198158.2:c.631del	NP_937801.1:p.Arg211AspfsTer4
NM_198159.2:c.952del	NP_937802.1:p.Arg318AspfsTer4
NM_198177.2:c.904del	NP_937820.1:p.Arg302AspfsTer4
NM_198178.2:c.463del	NP_937821.2:p.Arg155AspfsTer4
XM_005264754.1:c.970del	XP_005264811.1:p.Arg324AspfsTer4
XM_005264755.2:c.922del	XP_005264812.1:p.Arg308AspfsTer4
XM_006713164.2:c.814del	XP_006713227.1:p.Arg272AspfsTer4
XM_011533722.1:c.967del	XP_011532024.1:p.Arg323AspfsTer4
XM_011533723.1:c.919del	XP_011532025.1:p.Arg307AspfsTer4
XM_011533724.1:c.814del	XP_011532026.1:p.Arg272AspfsTer4
XM_011533725.1:c.802del	XP_011532027.1:p.Arg268AspfsTer4
XM_011533726.1:c.784del	XP_011532028.1:p.Arg262AspfsTer4
NM_001354604.1:c.970del	NP_001341533.1:p.Arg324AspfsTer4
NM_001354605.1:c.967del	NP_001341534.1:p.Arg323AspfsTer4
NM_001354606.1:c.949del	NP_001341535.1:p.Arg317AspfsTer4
NM_001354607.1:c.901del	NP_001341536.1:p.Arg301AspfsTer4
NM_001354608.1:c.796del	NP_001341537.1:p.Arg266AspfsTer4
NM_001184967.2:c.796del	NP_001171896.1:p.Arg266AspfsTer4
NM_001354604.2:c.970del MANE Select	NP_001341533.1:p.Arg324AspfsTer4
NM_001354605.2:c.967del	NP_001341534.1:p.Arg323AspfsTer4
NM_001354606.2:c.949del	NP_001341535.1:p.Arg317AspfsTer4
NM_001354607.2:c.901del	NP_001341536.1:p.Arg301AspfsTer4
NM_001354608.2:c.796del	NP_001341537.1:p.Arg266AspfsTer4
NM_198158.3:c.631del	NP_937801.1:p.Arg211AspfsTer4
NM_198159.3:c.952del	NP_937802.1:p.Arg318AspfsTer4
NM_198177.3:c.904del	NP_937820.1:p.Arg302AspfsTer4
NM_198178.3:c.463del	NP_937821.2:p.Arg155AspfsTer4
NM_000248.4:c.649del MANE Plus Clinical	NP_000239.1:p.Arg217AspfsTer4
NM_006722.3:c.949del	NP_006713.1:p.Arg317AspfsTer4