Canonical Allele Identifier: CA1139658170

Gene: MITF

Linked Data

• ClinVar Variation Id: 995920
• ClinVar RCV Id: RCV001290153
• dbSNP Id: rs2066400330

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69956468_69956472del , CM000665.2:g.69956468_69956472del	GRCh38
NC_000003.11:g.70005619_70005623del , CM000665.1:g.70005619_70005623del	GRCh37
NC_000003.10:g.70088309_70088313del	NCBI36
NG_011631.1:g.221987_221991del , LRG_776:g.221987_221991del

Transcript Alleles

HGVS	Amino-acid change
ENST00000314589.11:c.903_907del	ENSP00000324443.5:p.Arg301SerfsTer2
ENST00000687384.1:c.900_904del	ENSP00000510225.1:p.Arg300SerfsTer2
ENST00000689390.1:n.1125_1129del
ENST00000693031.1:c.876_880del	ENSP00000509845.1:p.Arg292SerfsTer2
ENST00000693549.1:c.903_907del	ENSP00000509358.1:p.Arg301SerfsTer2
ENST00000314589.10:c.903_907del	ENSP00000324443.5:p.Arg301SerfsTer2
ENST00000352241.9:c.969_973del MANE Select	ENSP00000295600.8:p.Arg323SerfsTer2
ENST00000394351.9:c.648_652del MANE Plus Clinical	ENSP00000377880.3:p.Arg216SerfsTer2
ENST00000448226.9:c.948_952del	ENSP00000391803.3:p.Arg316SerfsTer2
ENST00000642352.1:c.951_955del	ENSP00000494105.1:p.Arg317SerfsTer2
ENST00000314557.10:c.630_634del	ENSP00000324246.6:p.Arg210SerfsTer2
ENST00000314589.9:c.903_907del	ENSP00000324443.5:p.Arg301SerfsTer2
ENST00000328528.10:c.948_952del	ENSP00000327867.6:p.Arg316SerfsTer2
ENST00000352241.8:c.951_955del	ENSP00000295600.7:p.Arg317SerfsTer2
ENST00000394351.7:c.648_652del	ENSP00000377880.3:p.Arg216SerfsTer2
ENST00000448226.6:c.969_973del	ENSP00000391803.2:p.Arg323SerfsTer2
ENST00000451708.5:c.921_925del	ENSP00000398639.1:p.Arg307SerfsTer2
ENST00000472437.5:c.795_799del	ENSP00000418845.1:p.Arg265SerfsTer2
ENST00000478490.5:c.*295_*299del	ENSP00000433487.1:n.*295_*299del
ENST00000531774.1:c.462_466del	ENSP00000435909.1:p.Arg154SerfsTer2
NM_000248.3:c.648_652del , LRG_776t1:c.648_652del	NP_000239.1:p.Arg216SerfsTer2
NM_001184967.1:c.795_799del	NP_001171896.1:p.Arg265SerfsTer2
NM_006722.2:c.948_952del	NP_006713.1:p.Arg316SerfsTer2
NM_198158.2:c.630_634del	NP_937801.1:p.Arg210SerfsTer2
NM_198159.2:c.951_955del	NP_937802.1:p.Arg317SerfsTer2
NM_198177.2:c.903_907del	NP_937820.1:p.Arg301SerfsTer2
NM_198178.2:c.462_466del	NP_937821.2:p.Arg154SerfsTer2
XM_005264754.1:c.969_973del	XP_005264811.1:p.Arg323SerfsTer2
XM_005264755.2:c.921_925del	XP_005264812.1:p.Arg307SerfsTer2
XM_006713164.2:c.813_817del	XP_006713227.1:p.Arg271SerfsTer2
XM_011533722.1:c.966_970del	XP_011532024.1:p.Arg322SerfsTer2
XM_011533723.1:c.918_922del	XP_011532025.1:p.Arg306SerfsTer2
XM_011533724.1:c.813_817del	XP_011532026.1:p.Arg271SerfsTer2
XM_011533725.1:c.801_805del	XP_011532027.1:p.Arg267SerfsTer2
XM_011533726.1:c.783_787del	XP_011532028.1:p.Arg261SerfsTer2
NM_001354604.1:c.969_973del	NP_001341533.1:p.Arg323SerfsTer2
NM_001354605.1:c.966_970del	NP_001341534.1:p.Arg322SerfsTer2
NM_001354606.1:c.948_952del	NP_001341535.1:p.Arg316SerfsTer2
NM_001354607.1:c.900_904del	NP_001341536.1:p.Arg300SerfsTer2
NM_001354608.1:c.795_799del	NP_001341537.1:p.Arg265SerfsTer2
NM_001184967.2:c.795_799del	NP_001171896.1:p.Arg265SerfsTer2
NM_001354604.2:c.969_973del MANE Select	NP_001341533.1:p.Arg323SerfsTer2
NM_001354605.2:c.966_970del	NP_001341534.1:p.Arg322SerfsTer2
NM_001354606.2:c.948_952del	NP_001341535.1:p.Arg316SerfsTer2
NM_001354607.2:c.900_904del	NP_001341536.1:p.Arg300SerfsTer2
NM_001354608.2:c.795_799del	NP_001341537.1:p.Arg265SerfsTer2
NM_198158.3:c.630_634del	NP_937801.1:p.Arg210SerfsTer2
NM_198159.3:c.951_955del	NP_937802.1:p.Arg317SerfsTer2
NM_198177.3:c.903_907del	NP_937820.1:p.Arg301SerfsTer2
NM_198178.3:c.462_466del	NP_937821.2:p.Arg154SerfsTer2
NM_000248.4:c.648_652del MANE Plus Clinical	NP_000239.1:p.Arg216SerfsTer2
NM_006722.3:c.948_952del	NP_006713.1:p.Arg316SerfsTer2