Canonical Allele Identifier: CA434433831

Gene: MITF

Linked Data

• COSMIC: COSM1666554 ; COSM1666555 ; COSM1666556 ; COSM1666557
• MyVariant Identifiers: chr3:g.70014310del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965160del , CM000665.2:g.69965160del	GRCh38
NC_000003.11:g.70014311del , CM000665.1:g.70014311del	GRCh37
NC_000003.10:g.70097001del	NCBI36
NG_011631.1:g.230679del , LRG_776:g.230679del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1427del	ENSP00000324443.5:p.Pro476HisfsTer20
ENST00000687384.1:c.1424del	ENSP00000510225.1:p.Pro475HisfsTer20
ENST00000689390.1:n.1649del
ENST00000693031.1:c.1400del	ENSP00000509845.1:p.Pro467HisfsTer20
ENST00000693549.1:c.*238del	ENSP00000509358.1:n.*238del
ENST00000314589.10:c.1427del	ENSP00000324443.5:p.Pro476HisfsTer20
ENST00000352241.9:c.1493del MANE Select	ENSP00000295600.8:p.Pro498HisfsTer20
ENST00000394351.9:c.1172del MANE Plus Clinical	ENSP00000377880.3:p.Pro391HisfsTer20
ENST00000448226.9:c.1472del	ENSP00000391803.3:p.Pro491HisfsTer20
ENST00000642352.1:c.1475del	ENSP00000494105.1:p.Pro492HisfsTer20
ENST00000314557.10:c.1154del	ENSP00000324246.6:p.Pro385HisfsTer20
ENST00000314589.9:c.1427del	ENSP00000324443.5:p.Pro476HisfsTer20
ENST00000328528.10:c.1472del	ENSP00000327867.6:p.Pro491HisfsTer20
ENST00000352241.8:c.1475del	ENSP00000295600.7:p.Pro492HisfsTer20
ENST00000394351.7:c.1172del	ENSP00000377880.3:p.Pro391HisfsTer20
ENST00000448226.6:c.1493del	ENSP00000391803.2:p.Pro498HisfsTer20
ENST00000472437.5:c.1319del	ENSP00000418845.1:p.Pro440HisfsTer20
ENST00000478490.5:c.*819del	ENSP00000433487.1:n.*819del
ENST00000531774.1:c.986del	ENSP00000435909.1:p.Pro329HisfsTer20
NM_000248.3:c.1172del , LRG_776t1:c.1172del	NP_000239.1:p.Pro391HisfsTer20
NM_001184967.1:c.1319del	NP_001171896.1:p.Pro440HisfsTer20
NM_006722.2:c.1472del	NP_006713.1:p.Pro491HisfsTer20
NM_198158.2:c.1154del	NP_937801.1:p.Pro385HisfsTer20
NM_198159.2:c.1475del	NP_937802.1:p.Pro492HisfsTer20
NM_198177.2:c.1427del	NP_937820.1:p.Pro476HisfsTer20
NM_198178.2:c.986del	NP_937821.2:p.Pro329HisfsTer20
XM_005264754.1:c.1493del	XP_005264811.1:p.Pro498HisfsTer20
XM_005264755.2:c.1445del	XP_005264812.1:p.Pro482HisfsTer20
XM_006713164.2:c.1337del	XP_006713227.1:p.Pro446HisfsTer20
XM_011533722.1:c.1490del	XP_011532024.1:p.Pro497HisfsTer20
XM_011533723.1:c.1442del	XP_011532025.1:p.Pro481HisfsTer20
XM_011533724.1:c.1337del	XP_011532026.1:p.Pro446HisfsTer20
XM_011533725.1:c.1325del	XP_011532027.1:p.Pro442HisfsTer20
XM_011533726.1:c.1307del	XP_011532028.1:p.Pro436HisfsTer20
NM_001354604.1:c.1493del	NP_001341533.1:p.Pro498HisfsTer20
NM_001354605.1:c.1490del	NP_001341534.1:p.Pro497HisfsTer20
NM_001354606.1:c.1472del	NP_001341535.1:p.Pro491HisfsTer20
NM_001354607.1:c.1424del	NP_001341536.1:p.Pro475HisfsTer20
NM_001354608.1:c.1319del	NP_001341537.1:p.Pro440HisfsTer20
NM_001184967.2:c.1319del	NP_001171896.1:p.Pro440HisfsTer20
NM_001354604.2:c.1493del MANE Select	NP_001341533.1:p.Pro498HisfsTer20
NM_001354605.2:c.1490del	NP_001341534.1:p.Pro497HisfsTer20
NM_001354606.2:c.1472del	NP_001341535.1:p.Pro491HisfsTer20
NM_001354607.2:c.1424del	NP_001341536.1:p.Pro475HisfsTer20
NM_001354608.2:c.1319del	NP_001341537.1:p.Pro440HisfsTer20
NM_198158.3:c.1154del	NP_937801.1:p.Pro385HisfsTer20
NM_198159.3:c.1475del	NP_937802.1:p.Pro492HisfsTer20
NM_198177.3:c.1427del	NP_937820.1:p.Pro476HisfsTer20
NM_198178.3:c.986del	NP_937821.2:p.Pro329HisfsTer20
NM_000248.4:c.1172del MANE Plus Clinical	NP_000239.1:p.Pro391HisfsTer20
NM_006722.3:c.1472del	NP_006713.1:p.Pro491HisfsTer20