Canonical Allele Identifier: CA2756711122
Gene: MITF HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69949367_69949368insTTTCAAGGATCT , CM000665.2:g.69949367_69949368insTTTCAAGGATCT GRCh38
NC_000003.11:g.69998518_69998519insTTTCAAGGATCT , CM000665.1:g.69998518_69998519insTTTCAAGGATCT GRCh37
NC_000003.10:g.70081208_70081209insTTTCAAGGATCT NCBI36
NG_011631.1:g.214886_214887insTTTCAAGGATCT , LRG_776:g.214886_214887insTTTCAAGGATCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.832+199_832+200insTTTCAAGGATCT ENSP00000324443.5:n.832+199_832+200insTTTCAAGGATCT
ENST00000687384.1:c.829+199_829+200insTTTCAAGGATCT ENSP00000510225.1:n.829+199_829+200insTTTCAAGGATCT
ENST00000689390.1:n.1054+199_1054+200insTTTCAAGGATCT
ENST00000693031.1:c.805+199_805+200insTTTCAAGGATCT ENSP00000509845.1:n.805+199_805+200insTTTCAAGGATCT
ENST00000693549.1:c.832+199_832+200insTTTCAAGGATCT ENSP00000509358.1:n.832+199_832+200insTTTCAAGGATCT
ENST00000314589.10:c.832+199_832+200insTTTCAAGGATCT ENSP00000324443.5:n.832+199_832+200insTTTCAAGGATCT
ENST00000352241.9:c.880+199_880+200insTTTCAAGGATCT MANE Select ENSP00000295600.8:n.880+199_880+200insTTTCAAGGATCT
ENST00000394351.9:c.559+199_559+200insTTTCAAGGATCT MANE Plus Clinical ENSP00000377880.3:n.559+199_559+200insTTTCAAGGATCT
ENST00000448226.9:c.877+199_877+200insTTTCAAGGATCT ENSP00000391803.3:n.877+199_877+200insTTTCAAGGATCT
ENST00000642352.1:c.880+199_880+200insTTTCAAGGATCT ENSP00000494105.1:n.880+199_880+200insTTTCAAGGATCT
ENST00000314557.10:c.559+199_559+200insTTTCAAGGATCT ENSP00000324246.6:n.559+199_559+200insTTTCAAGGATCT
ENST00000314589.9:c.832+199_832+200insTTTCAAGGATCT ENSP00000324443.5:n.832+199_832+200insTTTCAAGGATCT
ENST00000328528.10:c.877+199_877+200insTTTCAAGGATCT ENSP00000327867.6:n.877+199_877+200insTTTCAAGGATCT
ENST00000352241.8:c.880+199_880+200insTTTCAAGGATCT ENSP00000295600.7:n.880+199_880+200insTTTCAAGGATCT
ENST00000394351.7:c.559+199_559+200insTTTCAAGGATCT ENSP00000377880.3:n.559+199_559+200insTTTCAAGGATCT
ENST00000448226.6:c.880+199_880+200insTTTCAAGGATCT ENSP00000391803.2:n.880+199_880+200insTTTCAAGGATCT
ENST00000451708.5:c.832+199_832+200insTTTCAAGGATCT ENSP00000398639.1:n.832+199_832+200insTTTCAAGGATCT
ENST00000472437.5:c.724+199_724+200insTTTCAAGGATCT ENSP00000418845.1:n.724+199_724+200insTTTCAAGGATCT
ENST00000478490.5:c.*206+199_*206+200insTTTCAAGGATCT ENSP00000433487.1:n.*206+199_*206+200insTTTCAAGGATCT
ENST00000531774.1:c.391+199_391+200insTTTCAAGGATCT ENSP00000435909.1:n.391+199_391+200insTTTCAAGGATCT
NM_000248.3:c.559+199_559+200insTTTCAAGGATCT , LRG_776t1:c.559+199_559+200insTTTCAAGGATCT NP_000239.1:n.559+199_559+200insTTTCAAGGATCT
NM_001184967.1:c.724+199_724+200insTTTCAAGGATCT NP_001171896.1:n.724+199_724+200insTTTCAAGGATCT
NM_006722.2:c.877+199_877+200insTTTCAAGGATCT NP_006713.1:n.877+199_877+200insTTTCAAGGATCT
NM_198158.2:c.559+199_559+200insTTTCAAGGATCT NP_937801.1:n.559+199_559+200insTTTCAAGGATCT
NM_198159.2:c.880+199_880+200insTTTCAAGGATCT NP_937802.1:n.880+199_880+200insTTTCAAGGATCT
NM_198177.2:c.832+199_832+200insTTTCAAGGATCT NP_937820.1:n.832+199_832+200insTTTCAAGGATCT
NM_198178.2:c.391+199_391+200insTTTCAAGGATCT NP_937821.2:n.391+199_391+200insTTTCAAGGATCT
XM_005264754.1:c.880+199_880+200insTTTCAAGGATCT XP_005264811.1:n.880+199_880+200insTTTCAAGGATCT
XM_005264755.2:c.832+199_832+200insTTTCAAGGATCT XP_005264812.1:n.832+199_832+200insTTTCAAGGATCT
XM_006713164.2:c.724+199_724+200insTTTCAAGGATCT XP_006713227.1:n.724+199_724+200insTTTCAAGGATCT
XM_011533722.1:c.877+199_877+200insTTTCAAGGATCT XP_011532024.1:n.877+199_877+200insTTTCAAGGATCT
XM_011533723.1:c.829+199_829+200insTTTCAAGGATCT XP_011532025.1:n.829+199_829+200insTTTCAAGGATCT
XM_011533724.1:c.724+199_724+200insTTTCAAGGATCT XP_011532026.1:n.724+199_724+200insTTTCAAGGATCT
XM_011533725.1:c.712+199_712+200insTTTCAAGGATCT XP_011532027.1:n.712+199_712+200insTTTCAAGGATCT
XM_011533726.1:c.712+199_712+200insTTTCAAGGATCT XP_011532028.1:n.712+199_712+200insTTTCAAGGATCT
NM_001354604.1:c.880+199_880+200insTTTCAAGGATCT NP_001341533.1:n.880+199_880+200insTTTCAAGGATCT
NM_001354605.1:c.877+199_877+200insTTTCAAGGATCT NP_001341534.1:n.877+199_877+200insTTTCAAGGATCT
NM_001354606.1:c.877+199_877+200insTTTCAAGGATCT NP_001341535.1:n.877+199_877+200insTTTCAAGGATCT
NM_001354607.1:c.829+199_829+200insTTTCAAGGATCT NP_001341536.1:n.829+199_829+200insTTTCAAGGATCT
NM_001354608.1:c.724+199_724+200insTTTCAAGGATCT NP_001341537.1:n.724+199_724+200insTTTCAAGGATCT
NM_001184967.2:c.724+199_724+200insTTTCAAGGATCT NP_001171896.1:n.724+199_724+200insTTTCAAGGATCT
NM_001354604.2:c.880+199_880+200insTTTCAAGGATCT MANE Select NP_001341533.1:n.880+199_880+200insTTTCAAGGATCT
NM_001354605.2:c.877+199_877+200insTTTCAAGGATCT NP_001341534.1:n.877+199_877+200insTTTCAAGGATCT
NM_001354606.2:c.877+199_877+200insTTTCAAGGATCT NP_001341535.1:n.877+199_877+200insTTTCAAGGATCT
NM_001354607.2:c.829+199_829+200insTTTCAAGGATCT NP_001341536.1:n.829+199_829+200insTTTCAAGGATCT
NM_001354608.2:c.724+199_724+200insTTTCAAGGATCT NP_001341537.1:n.724+199_724+200insTTTCAAGGATCT
NM_198158.3:c.559+199_559+200insTTTCAAGGATCT NP_937801.1:n.559+199_559+200insTTTCAAGGATCT
NM_198159.3:c.880+199_880+200insTTTCAAGGATCT NP_937802.1:n.880+199_880+200insTTTCAAGGATCT
NM_198177.3:c.832+199_832+200insTTTCAAGGATCT NP_937820.1:n.832+199_832+200insTTTCAAGGATCT
NM_198178.3:c.391+199_391+200insTTTCAAGGATCT NP_937821.2:n.391+199_391+200insTTTCAAGGATCT
NM_000248.4:c.559+199_559+200insTTTCAAGGATCT MANE Plus Clinical NP_000239.1:n.559+199_559+200insTTTCAAGGATCT
NM_006722.3:c.877+199_877+200insTTTCAAGGATCT NP_006713.1:n.877+199_877+200insTTTCAAGGATCT
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Search 100 bp 3'