Canonical Allele Identifier: CA2666480716
Gene: MITF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69951809_69951818del , CM000665.2:g.69951809_69951818del GRCh38
NC_000003.11:g.70000960_70000969del , CM000665.1:g.70000960_70000969del GRCh37
NC_000003.10:g.70083650_70083659del NCBI36
NG_011631.1:g.217328_217337del , LRG_776:g.217328_217337del

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.833-21_833-12del ENSP00000324443.5:n.833-21_833-12del
ENST00000687384.1:c.830-21_830-12del ENSP00000510225.1:n.830-21_830-12del
ENST00000689390.1:n.1055-21_1055-12del
ENST00000693031.1:c.806-21_806-12del ENSP00000509845.1:n.806-21_806-12del
ENST00000693549.1:c.833-21_833-12del ENSP00000509358.1:n.833-21_833-12del
ENST00000314589.10:c.833-21_833-12del ENSP00000324443.5:n.833-21_833-12del
ENST00000352241.9:c.881-3_887del
ENST00000394351.9:c.560-3_566del
ENST00000448226.9:c.878-21_878-12del ENSP00000391803.3:n.878-21_878-12del
ENST00000642352.1:c.881-21_881-12del ENSP00000494105.1:n.881-21_881-12del
ENST00000314557.10:c.560-21_560-12del ENSP00000324246.6:n.560-21_560-12del
ENST00000314589.9:c.833-21_833-12del ENSP00000324443.5:n.833-21_833-12del
ENST00000328528.10:c.878-21_878-12del ENSP00000327867.6:n.878-21_878-12del
ENST00000352241.8:c.881-21_881-12del ENSP00000295600.7:n.881-21_881-12del
ENST00000394351.7:c.560-3_566del
ENST00000448226.6:c.881-3_887del
ENST00000451708.5:c.833-3_839del
ENST00000472437.5:c.725-21_725-12del ENSP00000418845.1:n.725-21_725-12del
ENST00000478490.5:c.*207-3_*213del
ENST00000531774.1:c.392-21_392-12del ENSP00000435909.1:n.392-21_392-12del
NM_000248.3:c.560-3_566del , LRG_776t1:c.560-3_566del
NM_001184967.1:c.725-21_725-12del NP_001171896.1:n.725-21_725-12del
NM_006722.2:c.878-21_878-12del NP_006713.1:n.878-21_878-12del
NM_198158.2:c.560-21_560-12del NP_937801.1:n.560-21_560-12del
NM_198159.2:c.881-21_881-12del NP_937802.1:n.881-21_881-12del
NM_198177.2:c.833-21_833-12del NP_937820.1:n.833-21_833-12del
NM_198178.2:c.392-21_392-12del NP_937821.2:n.392-21_392-12del
XM_005264754.1:c.881-3_887del
XM_005264755.2:c.833-3_839del
XM_006713164.2:c.725-3_731del
XM_011533722.1:c.878-3_884del
XM_011533723.1:c.830-3_836del
XM_011533724.1:c.725-3_731del
XM_011533725.1:c.713-3_719del
XM_011533726.1:c.713-21_713-12del XP_011532028.1:n.713-21_713-12del
NM_001354604.1:c.881-3_887del
NM_001354605.1:c.878-3_884del
NM_001354606.1:c.878-21_878-12del NP_001341535.1:n.878-21_878-12del
NM_001354607.1:c.830-21_830-12del NP_001341536.1:n.830-21_830-12del
NM_001354608.1:c.725-21_725-12del NP_001341537.1:n.725-21_725-12del
NM_001184967.2:c.725-21_725-12del NP_001171896.1:n.725-21_725-12del
NM_001354604.2:c.881-3_887del
NM_001354605.2:c.878-3_884del
NM_001354606.2:c.878-21_878-12del NP_001341535.1:n.878-21_878-12del
NM_001354607.2:c.830-21_830-12del NP_001341536.1:n.830-21_830-12del
NM_001354608.2:c.725-21_725-12del NP_001341537.1:n.725-21_725-12del
NM_198158.3:c.560-21_560-12del NP_937801.1:n.560-21_560-12del
NM_198159.3:c.881-21_881-12del NP_937802.1:n.881-21_881-12del
NM_198177.3:c.833-21_833-12del NP_937820.1:n.833-21_833-12del
NM_198178.3:c.392-21_392-12del NP_937821.2:n.392-21_392-12del
NM_000248.4:c.560-3_566del
NM_006722.3:c.878-21_878-12del NP_006713.1:n.878-21_878-12del