Canonical Allele Identifier: CA2577819658
Gene: MITF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69956419_69956424del , CM000665.2:g.69956419_69956424del GRCh38
NC_000003.11:g.70005570_70005575del , CM000665.1:g.70005570_70005575del GRCh37
NC_000003.10:g.70088260_70088265del NCBI36
NG_011631.1:g.221938_221943del , LRG_776:g.221938_221943del

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.890-36_890-31del ENSP00000324443.5:n.890-36_890-31del
ENST00000687384.1:c.887-36_887-31del ENSP00000510225.1:n.887-36_887-31del
ENST00000689390.1:n.1112-36_1112-31del
ENST00000693031.1:c.863-36_863-31del ENSP00000509845.1:n.863-36_863-31del
ENST00000693549.1:c.890-36_890-31del ENSP00000509358.1:n.890-36_890-31del
ENST00000314589.10:c.890-36_890-31del ENSP00000324443.5:n.890-36_890-31del
ENST00000352241.9:c.956-36_956-31del MANE Select ENSP00000295600.8:n.956-36_956-31del
ENST00000394351.9:c.635-36_635-31del MANE Plus Clinical ENSP00000377880.3:n.635-36_635-31del
ENST00000448226.9:c.935-36_935-31del ENSP00000391803.3:n.935-36_935-31del
ENST00000642352.1:c.938-36_938-31del ENSP00000494105.1:n.938-36_938-31del
ENST00000314557.10:c.617-36_617-31del ENSP00000324246.6:n.617-36_617-31del
ENST00000314589.9:c.890-36_890-31del ENSP00000324443.5:n.890-36_890-31del
ENST00000328528.10:c.935-36_935-31del ENSP00000327867.6:n.935-36_935-31del
ENST00000352241.8:c.938-36_938-31del ENSP00000295600.7:n.938-36_938-31del
ENST00000394351.7:c.635-36_635-31del ENSP00000377880.3:n.635-36_635-31del
ENST00000448226.6:c.956-36_956-31del ENSP00000391803.2:n.956-36_956-31del
ENST00000451708.5:c.908-36_908-31del ENSP00000398639.1:n.908-36_908-31del
ENST00000472437.5:c.782-36_782-31del ENSP00000418845.1:n.782-36_782-31del
ENST00000478490.5:c.*282-36_*282-31del ENSP00000433487.1:n.*282-36_*282-31del
ENST00000531774.1:c.449-36_449-31del ENSP00000435909.1:n.449-36_449-31del
NM_000248.3:c.635-36_635-31del , LRG_776t1:c.635-36_635-31del NP_000239.1:n.635-36_635-31del
NM_001184967.1:c.782-36_782-31del NP_001171896.1:n.782-36_782-31del
NM_006722.2:c.935-36_935-31del NP_006713.1:n.935-36_935-31del
NM_198158.2:c.617-36_617-31del NP_937801.1:n.617-36_617-31del
NM_198159.2:c.938-36_938-31del NP_937802.1:n.938-36_938-31del
NM_198177.2:c.890-36_890-31del NP_937820.1:n.890-36_890-31del
NM_198178.2:c.449-36_449-31del NP_937821.2:n.449-36_449-31del
XM_005264754.1:c.956-36_956-31del XP_005264811.1:n.956-36_956-31del
XM_005264755.2:c.908-36_908-31del XP_005264812.1:n.908-36_908-31del
XM_006713164.2:c.800-36_800-31del XP_006713227.1:n.800-36_800-31del
XM_011533722.1:c.953-36_953-31del XP_011532024.1:n.953-36_953-31del
XM_011533723.1:c.905-36_905-31del XP_011532025.1:n.905-36_905-31del
XM_011533724.1:c.800-36_800-31del XP_011532026.1:n.800-36_800-31del
XM_011533725.1:c.788-36_788-31del XP_011532027.1:n.788-36_788-31del
XM_011533726.1:c.770-36_770-31del XP_011532028.1:n.770-36_770-31del
NM_001354604.1:c.956-36_956-31del NP_001341533.1:n.956-36_956-31del
NM_001354605.1:c.953-36_953-31del NP_001341534.1:n.953-36_953-31del
NM_001354606.1:c.935-36_935-31del NP_001341535.1:n.935-36_935-31del
NM_001354607.1:c.887-36_887-31del NP_001341536.1:n.887-36_887-31del
NM_001354608.1:c.782-36_782-31del NP_001341537.1:n.782-36_782-31del
NM_001184967.2:c.782-36_782-31del NP_001171896.1:n.782-36_782-31del
NM_001354604.2:c.956-36_956-31del MANE Select NP_001341533.1:n.956-36_956-31del
NM_001354605.2:c.953-36_953-31del NP_001341534.1:n.953-36_953-31del
NM_001354606.2:c.935-36_935-31del NP_001341535.1:n.935-36_935-31del
NM_001354607.2:c.887-36_887-31del NP_001341536.1:n.887-36_887-31del
NM_001354608.2:c.782-36_782-31del NP_001341537.1:n.782-36_782-31del
NM_198158.3:c.617-36_617-31del NP_937801.1:n.617-36_617-31del
NM_198159.3:c.938-36_938-31del NP_937802.1:n.938-36_938-31del
NM_198177.3:c.890-36_890-31del NP_937820.1:n.890-36_890-31del
NM_198178.3:c.449-36_449-31del NP_937821.2:n.449-36_449-31del
NM_000248.4:c.635-36_635-31del MANE Plus Clinical NP_000239.1:n.635-36_635-31del
NM_006722.3:c.935-36_935-31del NP_006713.1:n.935-36_935-31del