Canonical Allele Identifier: CA2666480944

Gene: MITF

Linked Data

• gnomAD v4: 3-69965085-TCCCCACAAAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965086_69965096del , CM000665.2:g.69965086_69965096del	GRCh38
NC_000003.11:g.70014237_70014247del , CM000665.1:g.70014237_70014247del	GRCh37
NC_000003.10:g.70096927_70096937del	NCBI36
NG_011631.1:g.230605_230615del , LRG_776:g.230605_230615del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1353_1363del	ENSP00000324443.5:p.Pro452GlyfsTer20
ENST00000687384.1:c.1350_1360del	ENSP00000510225.1:p.Pro451GlyfsTer20
ENST00000689390.1:n.1575_1585del
ENST00000693031.1:c.1326_1336del	ENSP00000509845.1:p.Pro443GlyfsTer20
ENST00000693549.1:c.*164_*174del	ENSP00000509358.1:n.*164_*174del
ENST00000314589.10:c.1353_1363del	ENSP00000324443.5:p.Pro452GlyfsTer20
ENST00000352241.9:c.1419_1429del MANE Select	ENSP00000295600.8:p.Pro474GlyfsTer20
ENST00000394351.9:c.1098_1108del MANE Plus Clinical	ENSP00000377880.3:p.Pro367GlyfsTer20
ENST00000448226.9:c.1398_1408del	ENSP00000391803.3:p.Pro467GlyfsTer20
ENST00000642352.1:c.1401_1411del	ENSP00000494105.1:p.Pro468GlyfsTer20
ENST00000314557.10:c.1080_1090del	ENSP00000324246.6:p.Pro361GlyfsTer20
ENST00000314589.9:c.1353_1363del	ENSP00000324443.5:p.Pro452GlyfsTer20
ENST00000328528.10:c.1398_1408del	ENSP00000327867.6:p.Pro467GlyfsTer20
ENST00000352241.8:c.1401_1411del	ENSP00000295600.7:p.Pro468GlyfsTer20
ENST00000394351.7:c.1098_1108del	ENSP00000377880.3:p.Pro367GlyfsTer20
ENST00000448226.6:c.1419_1429del	ENSP00000391803.2:p.Pro474GlyfsTer20
ENST00000472437.5:c.1245_1255del	ENSP00000418845.1:p.Pro416GlyfsTer20
ENST00000478490.5:c.*745_*755del	ENSP00000433487.1:n.*745_*755del
ENST00000531774.1:c.912_922del	ENSP00000435909.1:p.Pro305GlyfsTer20
NM_000248.3:c.1098_1108del , LRG_776t1:c.1098_1108del	NP_000239.1:p.Pro367GlyfsTer20
NM_001184967.1:c.1245_1255del	NP_001171896.1:p.Pro416GlyfsTer20
NM_006722.2:c.1398_1408del	NP_006713.1:p.Pro467GlyfsTer20
NM_198158.2:c.1080_1090del	NP_937801.1:p.Pro361GlyfsTer20
NM_198159.2:c.1401_1411del	NP_937802.1:p.Pro468GlyfsTer20
NM_198177.2:c.1353_1363del	NP_937820.1:p.Pro452GlyfsTer20
NM_198178.2:c.912_922del	NP_937821.2:p.Pro305GlyfsTer20
XM_005264754.1:c.1419_1429del	XP_005264811.1:p.Pro474GlyfsTer20
XM_005264755.2:c.1371_1381del	XP_005264812.1:p.Pro458GlyfsTer20
XM_006713164.2:c.1263_1273del	XP_006713227.1:p.Pro422GlyfsTer20
XM_011533722.1:c.1416_1426del	XP_011532024.1:p.Pro473GlyfsTer20
XM_011533723.1:c.1368_1378del	XP_011532025.1:p.Pro457GlyfsTer20
XM_011533724.1:c.1263_1273del	XP_011532026.1:p.Pro422GlyfsTer20
XM_011533725.1:c.1251_1261del	XP_011532027.1:p.Pro418GlyfsTer20
XM_011533726.1:c.1233_1243del	XP_011532028.1:p.Pro412GlyfsTer20
NM_001354604.1:c.1419_1429del	NP_001341533.1:p.Pro474GlyfsTer20
NM_001354605.1:c.1416_1426del	NP_001341534.1:p.Pro473GlyfsTer20
NM_001354606.1:c.1398_1408del	NP_001341535.1:p.Pro467GlyfsTer20
NM_001354607.1:c.1350_1360del	NP_001341536.1:p.Pro451GlyfsTer20
NM_001354608.1:c.1245_1255del	NP_001341537.1:p.Pro416GlyfsTer20
NM_001184967.2:c.1245_1255del	NP_001171896.1:p.Pro416GlyfsTer20
NM_001354604.2:c.1419_1429del MANE Select	NP_001341533.1:p.Pro474GlyfsTer20
NM_001354605.2:c.1416_1426del	NP_001341534.1:p.Pro473GlyfsTer20
NM_001354606.2:c.1398_1408del	NP_001341535.1:p.Pro467GlyfsTer20
NM_001354607.2:c.1350_1360del	NP_001341536.1:p.Pro451GlyfsTer20
NM_001354608.2:c.1245_1255del	NP_001341537.1:p.Pro416GlyfsTer20
NM_198158.3:c.1080_1090del	NP_937801.1:p.Pro361GlyfsTer20
NM_198159.3:c.1401_1411del	NP_937802.1:p.Pro468GlyfsTer20
NM_198177.3:c.1353_1363del	NP_937820.1:p.Pro452GlyfsTer20
NM_198178.3:c.912_922del	NP_937821.2:p.Pro305GlyfsTer20
NM_000248.4:c.1098_1108del MANE Plus Clinical	NP_000239.1:p.Pro367GlyfsTer20
NM_006722.3:c.1398_1408del	NP_006713.1:p.Pro467GlyfsTer20