Canonical Allele Identifier: CA2577819654
Gene: MITF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69956403del , CM000665.2:g.69956403del GRCh38
NC_000003.11:g.70005554del , CM000665.1:g.70005554del GRCh37
NC_000003.10:g.70088244del NCBI36
NG_011631.1:g.221922del , LRG_776:g.221922del

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.890-52del ENSP00000324443.5:n.890-52del
ENST00000687384.1:c.887-52del ENSP00000510225.1:n.887-52del
ENST00000689390.1:n.1112-52del
ENST00000693031.1:c.863-52del ENSP00000509845.1:n.863-52del
ENST00000693549.1:c.890-52del ENSP00000509358.1:n.890-52del
ENST00000314589.10:c.890-52del ENSP00000324443.5:n.890-52del
ENST00000352241.9:c.956-52del MANE Select ENSP00000295600.8:n.956-52del
ENST00000394351.9:c.635-52del MANE Plus Clinical ENSP00000377880.3:n.635-52del
ENST00000448226.9:c.935-52del ENSP00000391803.3:n.935-52del
ENST00000642352.1:c.938-52del ENSP00000494105.1:n.938-52del
ENST00000314557.10:c.617-52del ENSP00000324246.6:n.617-52del
ENST00000314589.9:c.890-52del ENSP00000324443.5:n.890-52del
ENST00000328528.10:c.935-52del ENSP00000327867.6:n.935-52del
ENST00000352241.8:c.938-52del ENSP00000295600.7:n.938-52del
ENST00000394351.7:c.635-52del ENSP00000377880.3:n.635-52del
ENST00000448226.6:c.956-52del ENSP00000391803.2:n.956-52del
ENST00000451708.5:c.908-52del ENSP00000398639.1:n.908-52del
ENST00000472437.5:c.782-52del ENSP00000418845.1:n.782-52del
ENST00000478490.5:c.*282-52del ENSP00000433487.1:n.*282-52del
ENST00000531774.1:c.449-52del ENSP00000435909.1:n.449-52del
NM_000248.3:c.635-52del , LRG_776t1:c.635-52del NP_000239.1:n.635-52del
NM_001184967.1:c.782-52del NP_001171896.1:n.782-52del
NM_006722.2:c.935-52del NP_006713.1:n.935-52del
NM_198158.2:c.617-52del NP_937801.1:n.617-52del
NM_198159.2:c.938-52del NP_937802.1:n.938-52del
NM_198177.2:c.890-52del NP_937820.1:n.890-52del
NM_198178.2:c.449-52del NP_937821.2:n.449-52del
XM_005264754.1:c.956-52del XP_005264811.1:n.956-52del
XM_005264755.2:c.908-52del XP_005264812.1:n.908-52del
XM_006713164.2:c.800-52del XP_006713227.1:n.800-52del
XM_011533722.1:c.953-52del XP_011532024.1:n.953-52del
XM_011533723.1:c.905-52del XP_011532025.1:n.905-52del
XM_011533724.1:c.800-52del XP_011532026.1:n.800-52del
XM_011533725.1:c.788-52del XP_011532027.1:n.788-52del
XM_011533726.1:c.770-52del XP_011532028.1:n.770-52del
NM_001354604.1:c.956-52del NP_001341533.1:n.956-52del
NM_001354605.1:c.953-52del NP_001341534.1:n.953-52del
NM_001354606.1:c.935-52del NP_001341535.1:n.935-52del
NM_001354607.1:c.887-52del NP_001341536.1:n.887-52del
NM_001354608.1:c.782-52del NP_001341537.1:n.782-52del
NM_001184967.2:c.782-52del NP_001171896.1:n.782-52del
NM_001354604.2:c.956-52del MANE Select NP_001341533.1:n.956-52del
NM_001354605.2:c.953-52del NP_001341534.1:n.953-52del
NM_001354606.2:c.935-52del NP_001341535.1:n.935-52del
NM_001354607.2:c.887-52del NP_001341536.1:n.887-52del
NM_001354608.2:c.782-52del NP_001341537.1:n.782-52del
NM_198158.3:c.617-52del NP_937801.1:n.617-52del
NM_198159.3:c.938-52del NP_937802.1:n.938-52del
NM_198177.3:c.890-52del NP_937820.1:n.890-52del
NM_198178.3:c.449-52del NP_937821.2:n.449-52del
NM_000248.4:c.635-52del MANE Plus Clinical NP_000239.1:n.635-52del
NM_006722.3:c.935-52del NP_006713.1:n.935-52del