Canonical Allele Identifier: CA1373414503

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965197_69965200delinsAAGC , CM000665.2:g.69965197_69965200delinsAAGC	GRCh38
NC_000003.11:g.70014348_70014351delinsAAGC , CM000665.1:g.70014348_70014351delinsAAGC	GRCh37
NC_000003.10:g.70097038_70097041delinsAAGC	NCBI36
NG_011631.1:g.230716_230719delinsAAGC , LRG_776:g.230716_230719delinsAAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1464_1467delinsAAGC	ENSP00000324443.5:p.Thr488=
ENST00000687384.1:c.1461_1464delinsAAGC	ENSP00000510225.1:p.Thr487=
ENST00000689390.1:n.1686_1689delinsAAGC
ENST00000693031.1:c.1437_1440delinsAAGC	ENSP00000509845.1:p.Thr479=
ENST00000693549.1:c.*275_*278delinsAAGC	ENSP00000509358.1:n.*275_*278delinsAAGC
ENST00000314589.10:c.1464_1467delinsAAGC	ENSP00000324443.5:p.Thr488=
ENST00000352241.9:c.1530_1533delinsAAGC MANE Select	ENSP00000295600.8:p.Thr510=
ENST00000394351.9:c.1209_1212delinsAAGC MANE Plus Clinical	ENSP00000377880.3:p.Thr403=
ENST00000448226.9:c.1509_1512delinsAAGC	ENSP00000391803.3:p.Thr503=
ENST00000642352.1:c.1512_1515delinsAAGC	ENSP00000494105.1:p.Thr504=
ENST00000314557.10:c.1191_1194delinsAAGC	ENSP00000324246.6:p.Thr397=
ENST00000314589.9:c.1464_1467delinsAAGC	ENSP00000324443.5:p.Thr488=
ENST00000328528.10:c.1509_1512delinsAAGC	ENSP00000327867.6:p.Thr503=
ENST00000352241.8:c.1512_1515delinsAAGC	ENSP00000295600.7:p.Thr504=
ENST00000394351.7:c.1209_1212delinsAAGC	ENSP00000377880.3:p.Thr403=
ENST00000448226.6:c.1530_1533delinsAAGC	ENSP00000391803.2:p.Thr510=
ENST00000472437.5:c.1356_1359delinsAAGC	ENSP00000418845.1:p.Thr452=
ENST00000478490.5:c.*856_*859delinsAAGC	ENSP00000433487.1:n.*856_*859delinsAAGC
ENST00000531774.1:c.1023_1026delinsAAGC	ENSP00000435909.1:p.Thr341=
NM_000248.3:c.1209_1212delinsAAGC , LRG_776t1:c.1209_1212delinsAAGC	NP_000239.1:p.Thr403=
NM_001184967.1:c.1356_1359delinsAAGC	NP_001171896.1:p.Thr452=
NM_006722.2:c.1509_1512delinsAAGC	NP_006713.1:p.Thr503=
NM_198158.2:c.1191_1194delinsAAGC	NP_937801.1:p.Thr397=
NM_198159.2:c.1512_1515delinsAAGC	NP_937802.1:p.Thr504=
NM_198177.2:c.1464_1467delinsAAGC	NP_937820.1:p.Thr488=
NM_198178.2:c.1023_1026delinsAAGC	NP_937821.2:p.Thr341=
XM_005264754.1:c.1530_1533delinsAAGC	XP_005264811.1:p.Thr510=
XM_005264755.2:c.1482_1485delinsAAGC	XP_005264812.1:p.Thr494=
XM_006713164.2:c.1374_1377delinsAAGC	XP_006713227.1:p.Thr458=
XM_011533722.1:c.1527_1530delinsAAGC	XP_011532024.1:p.Thr509=
XM_011533723.1:c.1479_1482delinsAAGC	XP_011532025.1:p.Thr493=
XM_011533724.1:c.1374_1377delinsAAGC	XP_011532026.1:p.Thr458=
XM_011533725.1:c.1362_1365delinsAAGC	XP_011532027.1:p.Thr454=
XM_011533726.1:c.1344_1347delinsAAGC	XP_011532028.1:p.Thr448=
NM_001354604.1:c.1530_1533delinsAAGC	NP_001341533.1:p.Thr510=
NM_001354605.1:c.1527_1530delinsAAGC	NP_001341534.1:p.Thr509=
NM_001354606.1:c.1509_1512delinsAAGC	NP_001341535.1:p.Thr503=
NM_001354607.1:c.1461_1464delinsAAGC	NP_001341536.1:p.Thr487=
NM_001354608.1:c.1356_1359delinsAAGC	NP_001341537.1:p.Thr452=
NM_001184967.2:c.1356_1359delinsAAGC	NP_001171896.1:p.Thr452=
NM_001354604.2:c.1530_1533delinsAAGC MANE Select	NP_001341533.1:p.Thr510=
NM_001354605.2:c.1527_1530delinsAAGC	NP_001341534.1:p.Thr509=
NM_001354606.2:c.1509_1512delinsAAGC	NP_001341535.1:p.Thr503=
NM_001354607.2:c.1461_1464delinsAAGC	NP_001341536.1:p.Thr487=
NM_001354608.2:c.1356_1359delinsAAGC	NP_001341537.1:p.Thr452=
NM_198158.3:c.1191_1194delinsAAGC	NP_937801.1:p.Thr397=
NM_198159.3:c.1512_1515delinsAAGC	NP_937802.1:p.Thr504=
NM_198177.3:c.1464_1467delinsAAGC	NP_937820.1:p.Thr488=
NM_198178.3:c.1023_1026delinsAAGC	NP_937821.2:p.Thr341=
NM_000248.4:c.1209_1212delinsAAGC MANE Plus Clinical	NP_000239.1:p.Thr403=
NM_006722.3:c.1509_1512delinsAAGC	NP_006713.1:p.Thr503=