Canonical Allele Identifier: CA2666480940

Gene: MITF

Linked Data

• gnomAD v4: 3-69964999-TACA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965005_69965007del , CM000665.2:g.69965005_69965007del	GRCh38
NC_000003.11:g.70014156_70014158del , CM000665.1:g.70014156_70014158del	GRCh37
NC_000003.10:g.70096846_70096848del	NCBI36
NG_011631.1:g.230524_230526del , LRG_776:g.230524_230526del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1272_1274del	ENSP00000324443.5:p.Thr425del
ENST00000687384.1:c.1269_1271del	ENSP00000510225.1:p.Thr424del
ENST00000689390.1:n.1494_1496del
ENST00000693031.1:c.1245_1247del	ENSP00000509845.1:p.Thr416del
ENST00000693549.1:c.*83_*85del	ENSP00000509358.1:n.*83_*85del
ENST00000314589.10:c.1272_1274del	ENSP00000324443.5:p.Thr425del
ENST00000352241.9:c.1338_1340del MANE Select	ENSP00000295600.8:p.Thr447del
ENST00000394351.9:c.1017_1019del MANE Plus Clinical	ENSP00000377880.3:p.Thr340del
ENST00000448226.9:c.1317_1319del	ENSP00000391803.3:p.Thr440del
ENST00000642352.1:c.1320_1322del	ENSP00000494105.1:p.Thr441del
ENST00000314557.10:c.999_1001del	ENSP00000324246.6:p.Thr334del
ENST00000314589.9:c.1272_1274del	ENSP00000324443.5:p.Thr425del
ENST00000328528.10:c.1317_1319del	ENSP00000327867.6:p.Thr440del
ENST00000352241.8:c.1320_1322del	ENSP00000295600.7:p.Thr441del
ENST00000394351.7:c.1017_1019del	ENSP00000377880.3:p.Thr340del
ENST00000448226.6:c.1338_1340del	ENSP00000391803.2:p.Thr447del
ENST00000472437.5:c.1164_1166del	ENSP00000418845.1:p.Thr389del
ENST00000478490.5:c.*664_*666del	ENSP00000433487.1:n.*664_*666del
ENST00000531774.1:c.831_833del	ENSP00000435909.1:p.Thr278del
NM_000248.3:c.1017_1019del , LRG_776t1:c.1017_1019del	NP_000239.1:p.Thr340del
NM_001184967.1:c.1164_1166del	NP_001171896.1:p.Thr389del
NM_006722.2:c.1317_1319del	NP_006713.1:p.Thr440del
NM_198158.2:c.999_1001del	NP_937801.1:p.Thr334del
NM_198159.2:c.1320_1322del	NP_937802.1:p.Thr441del
NM_198177.2:c.1272_1274del	NP_937820.1:p.Thr425del
NM_198178.2:c.831_833del	NP_937821.2:p.Thr278del
XM_005264754.1:c.1338_1340del	XP_005264811.1:p.Thr447del
XM_005264755.2:c.1290_1292del	XP_005264812.1:p.Thr431del
XM_006713164.2:c.1182_1184del	XP_006713227.1:p.Thr395del
XM_011533722.1:c.1335_1337del	XP_011532024.1:p.Thr446del
XM_011533723.1:c.1287_1289del	XP_011532025.1:p.Thr430del
XM_011533724.1:c.1182_1184del	XP_011532026.1:p.Thr395del
XM_011533725.1:c.1170_1172del	XP_011532027.1:p.Thr391del
XM_011533726.1:c.1152_1154del	XP_011532028.1:p.Thr385del
NM_001354604.1:c.1338_1340del	NP_001341533.1:p.Thr447del
NM_001354605.1:c.1335_1337del	NP_001341534.1:p.Thr446del
NM_001354606.1:c.1317_1319del	NP_001341535.1:p.Thr440del
NM_001354607.1:c.1269_1271del	NP_001341536.1:p.Thr424del
NM_001354608.1:c.1164_1166del	NP_001341537.1:p.Thr389del
NM_001184967.2:c.1164_1166del	NP_001171896.1:p.Thr389del
NM_001354604.2:c.1338_1340del MANE Select	NP_001341533.1:p.Thr447del
NM_001354605.2:c.1335_1337del	NP_001341534.1:p.Thr446del
NM_001354606.2:c.1317_1319del	NP_001341535.1:p.Thr440del
NM_001354607.2:c.1269_1271del	NP_001341536.1:p.Thr424del
NM_001354608.2:c.1164_1166del	NP_001341537.1:p.Thr389del
NM_198158.3:c.999_1001del	NP_937801.1:p.Thr334del
NM_198159.3:c.1320_1322del	NP_937802.1:p.Thr441del
NM_198177.3:c.1272_1274del	NP_937820.1:p.Thr425del
NM_198178.3:c.831_833del	NP_937821.2:p.Thr278del
NM_000248.4:c.1017_1019del MANE Plus Clinical	NP_000239.1:p.Thr340del
NM_006722.3:c.1317_1319del	NP_006713.1:p.Thr440del