Canonical Allele Identifier: CA645533384

Gene: MITF

Linked Data

• dbSNP Id: rs2107553476
• COSMIC: COSM5865278 ; COSM5865279 ; COSM5865280 ; COSM5865281

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965182del , CM000665.2:g.69965182del	GRCh38
NC_000003.11:g.70014333del , CM000665.1:g.70014333del	GRCh37
NC_000003.10:g.70097023del	NCBI36
NG_011631.1:g.230701del , LRG_776:g.230701del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1449del	ENSP00000324443.5:p.Gly484GlufsTer12
ENST00000687384.1:c.1446del	ENSP00000510225.1:p.Gly483GlufsTer12
ENST00000689390.1:n.1671del
ENST00000693031.1:c.1422del	ENSP00000509845.1:p.Gly475GlufsTer12
ENST00000693549.1:c.*260del	ENSP00000509358.1:n.*260del
ENST00000314589.10:c.1449del	ENSP00000324443.5:p.Gly484GlufsTer12
ENST00000352241.9:c.1515del MANE Select	ENSP00000295600.8:p.Gly506GlufsTer12
ENST00000394351.9:c.1194del MANE Plus Clinical	ENSP00000377880.3:p.Gly399GlufsTer12
ENST00000448226.9:c.1494del	ENSP00000391803.3:p.Gly499GlufsTer12
ENST00000642352.1:c.1497del	ENSP00000494105.1:p.Gly500GlufsTer12
ENST00000314557.10:c.1176del	ENSP00000324246.6:p.Gly393GlufsTer12
ENST00000314589.9:c.1449del	ENSP00000324443.5:p.Gly484GlufsTer12
ENST00000328528.10:c.1494del	ENSP00000327867.6:p.Gly499GlufsTer12
ENST00000352241.8:c.1497del	ENSP00000295600.7:p.Gly500GlufsTer12
ENST00000394351.7:c.1194del	ENSP00000377880.3:p.Gly399GlufsTer12
ENST00000448226.6:c.1515del	ENSP00000391803.2:p.Gly506GlufsTer12
ENST00000472437.5:c.1341del	ENSP00000418845.1:p.Gly448GlufsTer12
ENST00000478490.5:c.*841del	ENSP00000433487.1:n.*841del
ENST00000531774.1:c.1008del	ENSP00000435909.1:p.Gly337GlufsTer12
NM_000248.3:c.1194del , LRG_776t1:c.1194del	NP_000239.1:p.Gly399GlufsTer12
NM_001184967.1:c.1341del	NP_001171896.1:p.Gly448GlufsTer12
NM_006722.2:c.1494del	NP_006713.1:p.Gly499GlufsTer12
NM_198158.2:c.1176del	NP_937801.1:p.Gly393GlufsTer12
NM_198159.2:c.1497del	NP_937802.1:p.Gly500GlufsTer12
NM_198177.2:c.1449del	NP_937820.1:p.Gly484GlufsTer12
NM_198178.2:c.1008del	NP_937821.2:p.Gly337GlufsTer12
XM_005264754.1:c.1515del	XP_005264811.1:p.Gly506GlufsTer12
XM_005264755.2:c.1467del	XP_005264812.1:p.Gly490GlufsTer12
XM_006713164.2:c.1359del	XP_006713227.1:p.Gly454GlufsTer12
XM_011533722.1:c.1512del	XP_011532024.1:p.Gly505GlufsTer12
XM_011533723.1:c.1464del	XP_011532025.1:p.Gly489GlufsTer12
XM_011533724.1:c.1359del	XP_011532026.1:p.Gly454GlufsTer12
XM_011533725.1:c.1347del	XP_011532027.1:p.Gly450GlufsTer12
XM_011533726.1:c.1329del	XP_011532028.1:p.Gly444GlufsTer12
NM_001354604.1:c.1515del	NP_001341533.1:p.Gly506GlufsTer12
NM_001354605.1:c.1512del	NP_001341534.1:p.Gly505GlufsTer12
NM_001354606.1:c.1494del	NP_001341535.1:p.Gly499GlufsTer12
NM_001354607.1:c.1446del	NP_001341536.1:p.Gly483GlufsTer12
NM_001354608.1:c.1341del	NP_001341537.1:p.Gly448GlufsTer12
NM_001184967.2:c.1341del	NP_001171896.1:p.Gly448GlufsTer12
NM_001354604.2:c.1515del MANE Select	NP_001341533.1:p.Gly506GlufsTer12
NM_001354605.2:c.1512del	NP_001341534.1:p.Gly505GlufsTer12
NM_001354606.2:c.1494del	NP_001341535.1:p.Gly499GlufsTer12
NM_001354607.2:c.1446del	NP_001341536.1:p.Gly483GlufsTer12
NM_001354608.2:c.1341del	NP_001341537.1:p.Gly448GlufsTer12
NM_198158.3:c.1176del	NP_937801.1:p.Gly393GlufsTer12
NM_198159.3:c.1497del	NP_937802.1:p.Gly500GlufsTer12
NM_198177.3:c.1449del	NP_937820.1:p.Gly484GlufsTer12
NM_198178.3:c.1008del	NP_937821.2:p.Gly337GlufsTer12
NM_000248.4:c.1194del MANE Plus Clinical	NP_000239.1:p.Gly399GlufsTer12
NM_006722.3:c.1494del	NP_006713.1:p.Gly499GlufsTer12