Canonical Allele Identifier: CA1139658161

Gene: MITF

Linked Data

• ClinVar Variation Id: 995925
• ClinVar RCV Id: RCV001290161
• dbSNP Id: rs2066652447

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965044del , CM000665.2:g.69965044del	GRCh38
NC_000003.11:g.70014195del , CM000665.1:g.70014195del	GRCh37
NC_000003.10:g.70096885del	NCBI36
NG_011631.1:g.230563del , LRG_776:g.230563del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1311del	ENSP00000324443.5:p.Asn437LysfsTer27
ENST00000687384.1:c.1308del	ENSP00000510225.1:p.Asn436LysfsTer27
ENST00000689390.1:n.1533del
ENST00000693031.1:c.1284del	ENSP00000509845.1:p.Asn428LysfsTer27
ENST00000693549.1:c.*122del	ENSP00000509358.1:n.*122del
ENST00000314589.10:c.1311del	ENSP00000324443.5:p.Asn437LysfsTer27
ENST00000352241.9:c.1377del MANE Select	ENSP00000295600.8:p.Asn459LysfsTer27
ENST00000394351.9:c.1056del MANE Plus Clinical	ENSP00000377880.3:p.Asn352LysfsTer27
ENST00000448226.9:c.1356del	ENSP00000391803.3:p.Asn452LysfsTer27
ENST00000642352.1:c.1359del	ENSP00000494105.1:p.Asn453LysfsTer27
ENST00000314557.10:c.1038del	ENSP00000324246.6:p.Asn346LysfsTer27
ENST00000314589.9:c.1311del	ENSP00000324443.5:p.Asn437LysfsTer27
ENST00000328528.10:c.1356del	ENSP00000327867.6:p.Asn452LysfsTer27
ENST00000352241.8:c.1359del	ENSP00000295600.7:p.Asn453LysfsTer27
ENST00000394351.7:c.1056del	ENSP00000377880.3:p.Asn352LysfsTer27
ENST00000448226.6:c.1377del	ENSP00000391803.2:p.Asn459LysfsTer27
ENST00000472437.5:c.1203del	ENSP00000418845.1:p.Asn401LysfsTer27
ENST00000478490.5:c.*703del	ENSP00000433487.1:n.*703del
ENST00000531774.1:c.870del	ENSP00000435909.1:p.Asn290LysfsTer27
NM_000248.3:c.1056del , LRG_776t1:c.1056del	NP_000239.1:p.Asn352LysfsTer27
NM_001184967.1:c.1203del	NP_001171896.1:p.Asn401LysfsTer27
NM_006722.2:c.1356del	NP_006713.1:p.Asn452LysfsTer27
NM_198158.2:c.1038del	NP_937801.1:p.Asn346LysfsTer27
NM_198159.2:c.1359del	NP_937802.1:p.Asn453LysfsTer27
NM_198177.2:c.1311del	NP_937820.1:p.Asn437LysfsTer27
NM_198178.2:c.870del	NP_937821.2:p.Asn290LysfsTer27
XM_005264754.1:c.1377del	XP_005264811.1:p.Asn459LysfsTer27
XM_005264755.2:c.1329del	XP_005264812.1:p.Asn443LysfsTer27
XM_006713164.2:c.1221del	XP_006713227.1:p.Asn407LysfsTer27
XM_011533722.1:c.1374del	XP_011532024.1:p.Asn458LysfsTer27
XM_011533723.1:c.1326del	XP_011532025.1:p.Asn442LysfsTer27
XM_011533724.1:c.1221del	XP_011532026.1:p.Asn407LysfsTer27
XM_011533725.1:c.1209del	XP_011532027.1:p.Asn403LysfsTer27
XM_011533726.1:c.1191del	XP_011532028.1:p.Asn397LysfsTer27
NM_001354604.1:c.1377del	NP_001341533.1:p.Asn459LysfsTer27
NM_001354605.1:c.1374del	NP_001341534.1:p.Asn458LysfsTer27
NM_001354606.1:c.1356del	NP_001341535.1:p.Asn452LysfsTer27
NM_001354607.1:c.1308del	NP_001341536.1:p.Asn436LysfsTer27
NM_001354608.1:c.1203del	NP_001341537.1:p.Asn401LysfsTer27
NM_001184967.2:c.1203del	NP_001171896.1:p.Asn401LysfsTer27
NM_001354604.2:c.1377del MANE Select	NP_001341533.1:p.Asn459LysfsTer27
NM_001354605.2:c.1374del	NP_001341534.1:p.Asn458LysfsTer27
NM_001354606.2:c.1356del	NP_001341535.1:p.Asn452LysfsTer27
NM_001354607.2:c.1308del	NP_001341536.1:p.Asn436LysfsTer27
NM_001354608.2:c.1203del	NP_001341537.1:p.Asn401LysfsTer27
NM_198158.3:c.1038del	NP_937801.1:p.Asn346LysfsTer27
NM_198159.3:c.1359del	NP_937802.1:p.Asn453LysfsTer27
NM_198177.3:c.1311del	NP_937820.1:p.Asn437LysfsTer27
NM_198178.3:c.870del	NP_937821.2:p.Asn290LysfsTer27
NM_000248.4:c.1056del MANE Plus Clinical	NP_000239.1:p.Asn352LysfsTer27
NM_006722.3:c.1356del	NP_006713.1:p.Asn452LysfsTer27