Canonical Allele Identifier: CA2533779570

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69964796_69964797insAATACAAAAATAAA , CM000665.2:g.69964796_69964797insAATACAAAAATAAA	GRCh38
NC_000003.11:g.70013947_70013948insAATACAAAAATAAA , CM000665.1:g.70013947_70013948insAATACAAAAATAAA	GRCh37
NC_000003.10:g.70096637_70096638insAATACAAAAATAAA	NCBI36
NG_011631.1:g.230315_230316insAATACAAAAATAAA , LRG_776:g.230315_230316insAATACAAAAATAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1114-51_1114-50insAATACAAAAATAAA	ENSP00000324443.5:n.1114-51_1114-50insAATACAAAAATAAA
ENST00000687384.1:c.1111-51_1111-50insAATACAAAAATAAA	ENSP00000510225.1:n.1111-51_1111-50insAATACAAAAATAAA
ENST00000689390.1:n.1336-51_1336-50insAATACAAAAATAAA
ENST00000693031.1:c.1087-51_1087-50insAATACAAAAATAAA	ENSP00000509845.1:n.1087-51_1087-50insAATACAAAAATAAA
ENST00000693549.1:c.1114-118_1114-117insAATACAAAAATAAA	ENSP00000509358.1:n.1114-118_1114-117insAATACAAAAATAAA
ENST00000314589.10:c.1114-51_1114-50insAATACAAAAATAAA	ENSP00000324443.5:n.1114-51_1114-50insAATACAAAAATAAA
ENST00000352241.9:c.1180-51_1180-50insAATACAAAAATAAA MANE Select	ENSP00000295600.8:n.1180-51_1180-50insAATACAAAAATAAA
ENST00000394351.9:c.859-51_859-50insAATACAAAAATAAA MANE Plus Clinical	ENSP00000377880.3:n.859-51_859-50insAATACAAAAATAAA
ENST00000448226.9:c.1159-51_1159-50insAATACAAAAATAAA	ENSP00000391803.3:n.1159-51_1159-50insAATACAAAAATAAA
ENST00000642352.1:c.1162-51_1162-50insAATACAAAAATAAA	ENSP00000494105.1:n.1162-51_1162-50insAATACAAAAATAAA
ENST00000314557.10:c.841-51_841-50insAATACAAAAATAAA	ENSP00000324246.6:n.841-51_841-50insAATACAAAAATAAA
ENST00000314589.9:c.1114-51_1114-50insAATACAAAAATAAA	ENSP00000324443.5:n.1114-51_1114-50insAATACAAAAATAAA
ENST00000328528.10:c.1159-51_1159-50insAATACAAAAATAAA	ENSP00000327867.6:n.1159-51_1159-50insAATACAAAAATAAA
ENST00000352241.8:c.1162-51_1162-50insAATACAAAAATAAA	ENSP00000295600.7:n.1162-51_1162-50insAATACAAAAATAAA
ENST00000394351.7:c.859-51_859-50insAATACAAAAATAAA	ENSP00000377880.3:n.859-51_859-50insAATACAAAAATAAA
ENST00000448226.6:c.1180-51_1180-50insAATACAAAAATAAA	ENSP00000391803.2:n.1180-51_1180-50insAATACAAAAATAAA
ENST00000472437.5:c.1006-51_1006-50insAATACAAAAATAAA	ENSP00000418845.1:n.1006-51_1006-50insAATACAAAAATAAA
ENST00000478490.5:c.*506-51_*506-50insAATACAAAAATAAA	ENSP00000433487.1:n.*506-51_*506-50insAATACAAAAATAAA
ENST00000531774.1:c.673-51_673-50insAATACAAAAATAAA	ENSP00000435909.1:n.673-51_673-50insAATACAAAAATAAA
NM_000248.3:c.859-51_859-50insAATACAAAAATAAA , LRG_776t1:c.859-51_859-50insAATACAAAAATAAA	NP_000239.1:n.859-51_859-50insAATACAAAAATAAA
NM_001184967.1:c.1006-51_1006-50insAATACAAAAATAAA	NP_001171896.1:n.1006-51_1006-50insAATACAAAAATAAA
NM_006722.2:c.1159-51_1159-50insAATACAAAAATAAA	NP_006713.1:n.1159-51_1159-50insAATACAAAAATAAA
NM_198158.2:c.841-51_841-50insAATACAAAAATAAA	NP_937801.1:n.841-51_841-50insAATACAAAAATAAA
NM_198159.2:c.1162-51_1162-50insAATACAAAAATAAA	NP_937802.1:n.1162-51_1162-50insAATACAAAAATAAA
NM_198177.2:c.1114-51_1114-50insAATACAAAAATAAA	NP_937820.1:n.1114-51_1114-50insAATACAAAAATAAA
NM_198178.2:c.673-51_673-50insAATACAAAAATAAA	NP_937821.2:n.673-51_673-50insAATACAAAAATAAA
XM_005264754.1:c.1180-51_1180-50insAATACAAAAATAAA	XP_005264811.1:n.1180-51_1180-50insAATACAAAAATAAA
XM_005264755.2:c.1132-51_1132-50insAATACAAAAATAAA	XP_005264812.1:n.1132-51_1132-50insAATACAAAAATAAA
XM_006713164.2:c.1024-51_1024-50insAATACAAAAATAAA	XP_006713227.1:n.1024-51_1024-50insAATACAAAAATAAA
XM_011533722.1:c.1177-51_1177-50insAATACAAAAATAAA	XP_011532024.1:n.1177-51_1177-50insAATACAAAAATAAA
XM_011533723.1:c.1129-51_1129-50insAATACAAAAATAAA	XP_011532025.1:n.1129-51_1129-50insAATACAAAAATAAA
XM_011533724.1:c.1024-51_1024-50insAATACAAAAATAAA	XP_011532026.1:n.1024-51_1024-50insAATACAAAAATAAA
XM_011533725.1:c.1012-51_1012-50insAATACAAAAATAAA	XP_011532027.1:n.1012-51_1012-50insAATACAAAAATAAA
XM_011533726.1:c.994-51_994-50insAATACAAAAATAAA	XP_011532028.1:n.994-51_994-50insAATACAAAAATAAA
NM_001354604.1:c.1180-51_1180-50insAATACAAAAATAAA	NP_001341533.1:n.1180-51_1180-50insAATACAAAAATAAA
NM_001354605.1:c.1177-51_1177-50insAATACAAAAATAAA	NP_001341534.1:n.1177-51_1177-50insAATACAAAAATAAA
NM_001354606.1:c.1159-51_1159-50insAATACAAAAATAAA	NP_001341535.1:n.1159-51_1159-50insAATACAAAAATAAA
NM_001354607.1:c.1111-51_1111-50insAATACAAAAATAAA	NP_001341536.1:n.1111-51_1111-50insAATACAAAAATAAA
NM_001354608.1:c.1006-51_1006-50insAATACAAAAATAAA	NP_001341537.1:n.1006-51_1006-50insAATACAAAAATAAA
NM_001184967.2:c.1006-51_1006-50insAATACAAAAATAAA	NP_001171896.1:n.1006-51_1006-50insAATACAAAAATAAA
NM_001354604.2:c.1180-51_1180-50insAATACAAAAATAAA MANE Select	NP_001341533.1:n.1180-51_1180-50insAATACAAAAATAAA
NM_001354605.2:c.1177-51_1177-50insAATACAAAAATAAA	NP_001341534.1:n.1177-51_1177-50insAATACAAAAATAAA
NM_001354606.2:c.1159-51_1159-50insAATACAAAAATAAA	NP_001341535.1:n.1159-51_1159-50insAATACAAAAATAAA
NM_001354607.2:c.1111-51_1111-50insAATACAAAAATAAA	NP_001341536.1:n.1111-51_1111-50insAATACAAAAATAAA
NM_001354608.2:c.1006-51_1006-50insAATACAAAAATAAA	NP_001341537.1:n.1006-51_1006-50insAATACAAAAATAAA
NM_198158.3:c.841-51_841-50insAATACAAAAATAAA	NP_937801.1:n.841-51_841-50insAATACAAAAATAAA
NM_198159.3:c.1162-51_1162-50insAATACAAAAATAAA	NP_937802.1:n.1162-51_1162-50insAATACAAAAATAAA
NM_198177.3:c.1114-51_1114-50insAATACAAAAATAAA	NP_937820.1:n.1114-51_1114-50insAATACAAAAATAAA
NM_198178.3:c.673-51_673-50insAATACAAAAATAAA	NP_937821.2:n.673-51_673-50insAATACAAAAATAAA
NM_000248.4:c.859-51_859-50insAATACAAAAATAAA MANE Plus Clinical	NP_000239.1:n.859-51_859-50insAATACAAAAATAAA
NM_006722.3:c.1159-51_1159-50insAATACAAAAATAAA	NP_006713.1:n.1159-51_1159-50insAATACAAAAATAAA