Canonical Allele Identifier: CA1373441020
Gene: MITF HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69949428_69949430delinsCTG , CM000665.2:g.69949428_69949430delinsCTG GRCh38
NC_000003.11:g.69998579_69998581delinsCTG , CM000665.1:g.69998579_69998581delinsCTG GRCh37
NC_000003.10:g.70081269_70081271delinsCTG NCBI36
NG_011631.1:g.214947_214949delinsCTG , LRG_776:g.214947_214949delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.832+260_832+262delinsCTG ENSP00000324443.5:n.832+260_832+262delinsCTG
ENST00000687384.1:c.829+260_829+262delinsCTG ENSP00000510225.1:n.829+260_829+262delinsCTG
ENST00000689390.1:n.1054+260_1054+262delinsCTG
ENST00000693031.1:c.805+260_805+262delinsCTG ENSP00000509845.1:n.805+260_805+262delinsCTG
ENST00000693549.1:c.832+260_832+262delinsCTG ENSP00000509358.1:n.832+260_832+262delinsCTG
ENST00000314589.10:c.832+260_832+262delinsCTG ENSP00000324443.5:n.832+260_832+262delinsCTG
ENST00000352241.9:c.880+260_880+262delinsCTG MANE Select ENSP00000295600.8:n.880+260_880+262delinsCTG
ENST00000394351.9:c.559+260_559+262delinsCTG MANE Plus Clinical ENSP00000377880.3:n.559+260_559+262delinsCTG
ENST00000448226.9:c.877+260_877+262delinsCTG ENSP00000391803.3:n.877+260_877+262delinsCTG
ENST00000642352.1:c.880+260_880+262delinsCTG ENSP00000494105.1:n.880+260_880+262delinsCTG
ENST00000314557.10:c.559+260_559+262delinsCTG ENSP00000324246.6:n.559+260_559+262delinsCTG
ENST00000314589.9:c.832+260_832+262delinsCTG ENSP00000324443.5:n.832+260_832+262delinsCTG
ENST00000328528.10:c.877+260_877+262delinsCTG ENSP00000327867.6:n.877+260_877+262delinsCTG
ENST00000352241.8:c.880+260_880+262delinsCTG ENSP00000295600.7:n.880+260_880+262delinsCTG
ENST00000394351.7:c.559+260_559+262delinsCTG ENSP00000377880.3:n.559+260_559+262delinsCTG
ENST00000448226.6:c.880+260_880+262delinsCTG ENSP00000391803.2:n.880+260_880+262delinsCTG
ENST00000451708.5:c.832+260_832+262delinsCTG ENSP00000398639.1:n.832+260_832+262delinsCTG
ENST00000472437.5:c.724+260_724+262delinsCTG ENSP00000418845.1:n.724+260_724+262delinsCTG
ENST00000478490.5:c.*206+260_*206+262delinsCTG ENSP00000433487.1:n.*206+260_*206+262delinsCTG
ENST00000531774.1:c.391+260_391+262delinsCTG ENSP00000435909.1:n.391+260_391+262delinsCTG
NM_000248.3:c.559+260_559+262delinsCTG , LRG_776t1:c.559+260_559+262delinsCTG NP_000239.1:n.559+260_559+262delinsCTG
NM_001184967.1:c.724+260_724+262delinsCTG NP_001171896.1:n.724+260_724+262delinsCTG
NM_006722.2:c.877+260_877+262delinsCTG NP_006713.1:n.877+260_877+262delinsCTG
NM_198158.2:c.559+260_559+262delinsCTG NP_937801.1:n.559+260_559+262delinsCTG
NM_198159.2:c.880+260_880+262delinsCTG NP_937802.1:n.880+260_880+262delinsCTG
NM_198177.2:c.832+260_832+262delinsCTG NP_937820.1:n.832+260_832+262delinsCTG
NM_198178.2:c.391+260_391+262delinsCTG NP_937821.2:n.391+260_391+262delinsCTG
XM_005264754.1:c.880+260_880+262delinsCTG XP_005264811.1:n.880+260_880+262delinsCTG
XM_005264755.2:c.832+260_832+262delinsCTG XP_005264812.1:n.832+260_832+262delinsCTG
XM_006713164.2:c.724+260_724+262delinsCTG XP_006713227.1:n.724+260_724+262delinsCTG
XM_011533722.1:c.877+260_877+262delinsCTG XP_011532024.1:n.877+260_877+262delinsCTG
XM_011533723.1:c.829+260_829+262delinsCTG XP_011532025.1:n.829+260_829+262delinsCTG
XM_011533724.1:c.724+260_724+262delinsCTG XP_011532026.1:n.724+260_724+262delinsCTG
XM_011533725.1:c.712+260_712+262delinsCTG XP_011532027.1:n.712+260_712+262delinsCTG
XM_011533726.1:c.712+260_712+262delinsCTG XP_011532028.1:n.712+260_712+262delinsCTG
NM_001354604.1:c.880+260_880+262delinsCTG NP_001341533.1:n.880+260_880+262delinsCTG
NM_001354605.1:c.877+260_877+262delinsCTG NP_001341534.1:n.877+260_877+262delinsCTG
NM_001354606.1:c.877+260_877+262delinsCTG NP_001341535.1:n.877+260_877+262delinsCTG
NM_001354607.1:c.829+260_829+262delinsCTG NP_001341536.1:n.829+260_829+262delinsCTG
NM_001354608.1:c.724+260_724+262delinsCTG NP_001341537.1:n.724+260_724+262delinsCTG
NM_001184967.2:c.724+260_724+262delinsCTG NP_001171896.1:n.724+260_724+262delinsCTG
NM_001354604.2:c.880+260_880+262delinsCTG MANE Select NP_001341533.1:n.880+260_880+262delinsCTG
NM_001354605.2:c.877+260_877+262delinsCTG NP_001341534.1:n.877+260_877+262delinsCTG
NM_001354606.2:c.877+260_877+262delinsCTG NP_001341535.1:n.877+260_877+262delinsCTG
NM_001354607.2:c.829+260_829+262delinsCTG NP_001341536.1:n.829+260_829+262delinsCTG
NM_001354608.2:c.724+260_724+262delinsCTG NP_001341537.1:n.724+260_724+262delinsCTG
NM_198158.3:c.559+260_559+262delinsCTG NP_937801.1:n.559+260_559+262delinsCTG
NM_198159.3:c.880+260_880+262delinsCTG NP_937802.1:n.880+260_880+262delinsCTG
NM_198177.3:c.832+260_832+262delinsCTG NP_937820.1:n.832+260_832+262delinsCTG
NM_198178.3:c.391+260_391+262delinsCTG NP_937821.2:n.391+260_391+262delinsCTG
NM_000248.4:c.559+260_559+262delinsCTG MANE Plus Clinical NP_000239.1:n.559+260_559+262delinsCTG
NM_006722.3:c.877+260_877+262delinsCTG NP_006713.1:n.877+260_877+262delinsCTG
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