Canonical Allele Identifier: CA2580070406

Gene: MITF

Linked Data

• ClinVar Variation Id: 2034856
• ClinVar RCV Id: RCV002889744

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69951884_69951889del , CM000665.2:g.69951884_69951889del	GRCh38
NC_000003.11:g.70001035_70001040del , CM000665.1:g.70001035_70001040del	GRCh37
NC_000003.10:g.70083725_70083730del	NCBI36
NG_011631.1:g.217403_217408del , LRG_776:g.217403_217408del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.887_889+3del
ENST00000687384.1:c.884_886+3del
ENST00000689390.1:n.1109_1111+3del
ENST00000693031.1:c.860_862+3del
ENST00000693549.1:c.887_889+3del
ENST00000314589.10:c.887_889+3del
ENST00000352241.9:c.953_955+3del
ENST00000394351.9:c.632_634+3del
ENST00000448226.9:c.932_934+3del
ENST00000642352.1:c.935_937+3del
ENST00000314557.10:c.614_616+3del
ENST00000314589.9:c.887_889+3del
ENST00000328528.10:c.932_934+3del
ENST00000352241.8:c.935_937+3del
ENST00000394351.7:c.632_634+3del
ENST00000448226.6:c.953_955+3del
ENST00000451708.5:c.905_907+3del
ENST00000472437.5:c.779_781+3del
ENST00000478490.5:c.*279_*281+3del
ENST00000531774.1:c.446_448+3del
NM_000248.3:c.632_634+3del , LRG_776t1:c.632_634+3del
NM_001184967.1:c.779_781+3del
NM_006722.2:c.932_934+3del
NM_198158.2:c.614_616+3del
NM_198159.2:c.935_937+3del
NM_198177.2:c.887_889+3del
NM_198178.2:c.446_448+3del
XM_005264754.1:c.953_955+3del
XM_005264755.2:c.905_907+3del
XM_006713164.2:c.797_799+3del
XM_011533722.1:c.950_952+3del
XM_011533723.1:c.902_904+3del
XM_011533724.1:c.797_799+3del
XM_011533725.1:c.785_787+3del
XM_011533726.1:c.767_769+3del
NM_001354604.1:c.953_955+3del
NM_001354605.1:c.950_952+3del
NM_001354606.1:c.932_934+3del
NM_001354607.1:c.884_886+3del
NM_001354608.1:c.779_781+3del
NM_001184967.2:c.779_781+3del
NM_001354604.2:c.953_955+3del
NM_001354605.2:c.950_952+3del
NM_001354606.2:c.932_934+3del
NM_001354607.2:c.884_886+3del
NM_001354608.2:c.779_781+3del
NM_198158.3:c.614_616+3del
NM_198159.3:c.935_937+3del
NM_198177.3:c.887_889+3del
NM_198178.3:c.446_448+3del
NM_000248.4:c.632_634+3del
NM_006722.3:c.932_934+3del