Canonical Allele Identifier: CA10619450

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965822_69965824dup , CM000665.2:g.69965822_69965824dup	GRCh38
NC_000003.11:g.70014973_70014975dup , CM000665.1:g.70014973_70014975dup	GRCh37
NC_000003.10:g.70097663_70097665dup	NCBI36
NG_011631.1:g.231341_231343dup , LRG_776:g.231341_231343dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001354604.2:c.*574_*576dup MANE Select	NP_001341533.1:n.*574_*576dup
ENST00000352241.9:c.*574_*576dup MANE Select	ENSP00000295600.8:n.*574_*576dup
NM_000248.4:c.*574_*576dup MANE Plus Clinical	NP_000239.1:n.*574_*576dup
ENST00000394351.9:c.*574_*576dup MANE Plus Clinical	ENSP00000377880.3:n.*574_*576dup
NM_000248.3:c.*574_*576dup , LRG_776t1:c.*574_*576dup	NP_000239.1:n.*574_*576dup
NM_001184967.1:c.*574_*576dup	NP_001171896.1:n.*574_*576dup
NM_001184967.2:c.*574_*576dup	NP_001171896.1:n.*574_*576dup
NM_001354604.1:c.*574_*576dup	NP_001341533.1:n.*574_*576dup
NM_001354605.1:c.*574_*576dup	NP_001341534.1:n.*574_*576dup
NM_001354605.2:c.*574_*576dup	NP_001341534.1:n.*574_*576dup
NM_001354606.1:c.*574_*576dup	NP_001341535.1:n.*574_*576dup
NM_001354606.2:c.*574_*576dup	NP_001341535.1:n.*574_*576dup
NM_001354607.1:c.*574_*576dup	NP_001341536.1:n.*574_*576dup
NM_001354607.2:c.*574_*576dup	NP_001341536.1:n.*574_*576dup
NM_001354608.1:c.*574_*576dup	NP_001341537.1:n.*574_*576dup
NM_001354608.2:c.*574_*576dup	NP_001341537.1:n.*574_*576dup
NM_006722.2:c.*574_*576dup	NP_006713.1:n.*574_*576dup
NM_006722.3:c.*574_*576dup	NP_006713.1:n.*574_*576dup
NM_198158.2:c.*574_*576dup	NP_937801.1:n.*574_*576dup
NM_198158.3:c.*574_*576dup	NP_937801.1:n.*574_*576dup
NM_198159.2:c.*574_*576dup	NP_937802.1:n.*574_*576dup
NM_198159.3:c.*574_*576dup	NP_937802.1:n.*574_*576dup
NM_198177.2:c.*574_*576dup	NP_937820.1:n.*574_*576dup
NM_198177.3:c.*574_*576dup	NP_937820.1:n.*574_*576dup
NM_198178.2:c.*574_*576dup	NP_937821.2:n.*574_*576dup
NM_198178.3:c.*574_*576dup	NP_937821.2:n.*574_*576dup
ENST00000314589.10:c.*574_*576dup	ENSP00000324443.5:n.*574_*576dup
ENST00000314589.11:c.*574_*576dup	ENSP00000324443.5:n.*574_*576dup
ENST00000328528.10:c.*574_*576dup	ENSP00000327867.6:n.*574_*576dup
ENST00000352241.8:c.*574_*576dup	ENSP00000295600.7:n.*574_*576dup
ENST00000448226.6:c.*574_*576dup	ENSP00000391803.2:n.*574_*576dup
ENST00000448226.9:c.*574_*576dup	ENSP00000391803.3:n.*574_*576dup
ENST00000642352.1:c.*574_*576dup	ENSP00000494105.1:n.*574_*576dup
XM_005264754.1:c.*574_*576dup	XP_005264811.1:n.*574_*576dup
XM_005264755.2:c.*574_*576dup	XP_005264812.1:n.*574_*576dup
XM_006713164.2:c.*574_*576dup	XP_006713227.1:n.*574_*576dup
XM_011533722.1:c.*574_*576dup	XP_011532024.1:n.*574_*576dup
XM_011533723.1:c.*574_*576dup	XP_011532025.1:n.*574_*576dup
XM_011533724.1:c.*574_*576dup	XP_011532026.1:n.*574_*576dup
XM_011533725.1:c.*574_*576dup	XP_011532027.1:n.*574_*576dup
XM_011533726.1:c.*574_*576dup	XP_011532028.1:n.*574_*576dup