Canonical Allele Identifier: CA915942981

Gene: MITF

Linked Data

• ClinVar Variation Id: 809507
• ClinVar RCV Id: RCV000998101
• dbSNP Id: rs1576071470

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965201_69965203del , CM000665.2:g.69965201_69965203del	GRCh38
NC_000003.11:g.70014352_70014354del , CM000665.1:g.70014352_70014354del	GRCh37
NC_000003.10:g.70097042_70097044del	NCBI36
NG_011631.1:g.230720_230722del , LRG_776:g.230720_230722del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1468_1470del	ENSP00000324443.5:p.Ser490del
ENST00000687384.1:c.1465_1467del	ENSP00000510225.1:p.Ser489del
ENST00000689390.1:n.1690_1692del
ENST00000693031.1:c.1441_1443del	ENSP00000509845.1:p.Ser481del
ENST00000693549.1:c.*279_*281del	ENSP00000509358.1:n.*279_*281del
ENST00000314589.10:c.1468_1470del	ENSP00000324443.5:p.Ser490del
ENST00000352241.9:c.1534_1536del MANE Select	ENSP00000295600.8:p.Ser512del
ENST00000394351.9:c.1213_1215del MANE Plus Clinical	ENSP00000377880.3:p.Ser405del
ENST00000448226.9:c.1513_1515del	ENSP00000391803.3:p.Ser505del
ENST00000642352.1:c.1516_1518del	ENSP00000494105.1:p.Ser506del
ENST00000314557.10:c.1195_1197del	ENSP00000324246.6:p.Ser399del
ENST00000314589.9:c.1468_1470del	ENSP00000324443.5:p.Ser490del
ENST00000328528.10:c.1513_1515del	ENSP00000327867.6:p.Ser505del
ENST00000352241.8:c.1516_1518del	ENSP00000295600.7:p.Ser506del
ENST00000394351.7:c.1213_1215del	ENSP00000377880.3:p.Ser405del
ENST00000448226.6:c.1534_1536del	ENSP00000391803.2:p.Ser512del
ENST00000472437.5:c.1360_1362del	ENSP00000418845.1:p.Ser454del
ENST00000478490.5:c.*860_*862del	ENSP00000433487.1:n.*860_*862del
ENST00000531774.1:c.1027_1029del	ENSP00000435909.1:p.Ser343del
NM_000248.3:c.1213_1215del , LRG_776t1:c.1213_1215del	NP_000239.1:p.Ser405del
NM_001184967.1:c.1360_1362del	NP_001171896.1:p.Ser454del
NM_006722.2:c.1513_1515del	NP_006713.1:p.Ser505del
NM_198158.2:c.1195_1197del	NP_937801.1:p.Ser399del
NM_198159.2:c.1516_1518del	NP_937802.1:p.Ser506del
NM_198177.2:c.1468_1470del	NP_937820.1:p.Ser490del
NM_198178.2:c.1027_1029del	NP_937821.2:p.Ser343del
XM_005264754.1:c.1534_1536del	XP_005264811.1:p.Ser512del
XM_005264755.2:c.1486_1488del	XP_005264812.1:p.Ser496del
XM_006713164.2:c.1378_1380del	XP_006713227.1:p.Ser460del
XM_011533722.1:c.1531_1533del	XP_011532024.1:p.Ser511del
XM_011533723.1:c.1483_1485del	XP_011532025.1:p.Ser495del
XM_011533724.1:c.1378_1380del	XP_011532026.1:p.Ser460del
XM_011533725.1:c.1366_1368del	XP_011532027.1:p.Ser456del
XM_011533726.1:c.1348_1350del	XP_011532028.1:p.Ser450del
NM_001354604.1:c.1534_1536del	NP_001341533.1:p.Ser512del
NM_001354605.1:c.1531_1533del	NP_001341534.1:p.Ser511del
NM_001354606.1:c.1513_1515del	NP_001341535.1:p.Ser505del
NM_001354607.1:c.1465_1467del	NP_001341536.1:p.Ser489del
NM_001354608.1:c.1360_1362del	NP_001341537.1:p.Ser454del
NM_001184967.2:c.1360_1362del	NP_001171896.1:p.Ser454del
NM_001354604.2:c.1534_1536del MANE Select	NP_001341533.1:p.Ser512del
NM_001354605.2:c.1531_1533del	NP_001341534.1:p.Ser511del
NM_001354606.2:c.1513_1515del	NP_001341535.1:p.Ser505del
NM_001354607.2:c.1465_1467del	NP_001341536.1:p.Ser489del
NM_001354608.2:c.1360_1362del	NP_001341537.1:p.Ser454del
NM_198158.3:c.1195_1197del	NP_937801.1:p.Ser399del
NM_198159.3:c.1516_1518del	NP_937802.1:p.Ser506del
NM_198177.3:c.1468_1470del	NP_937820.1:p.Ser490del
NM_198178.3:c.1027_1029del	NP_937821.2:p.Ser343del
NM_000248.4:c.1213_1215del MANE Plus Clinical	NP_000239.1:p.Ser405del
NM_006722.3:c.1513_1515del	NP_006713.1:p.Ser505del