Canonical Allele Identifier: CA543812459

Gene: MITF

Linked Data

• dbSNP Id: rs1192103246
• gnomAD v2: 3-69998164-TCAA-T
• gnomAD v4: 3-69949013-TCAA-T
• MyVariant Identifiers: chr3:g.69998165_69998167del (hg19) ; chr3:g.69949014_69949016del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69949016_69949018del , CM000665.2:g.69949016_69949018del	GRCh38
NC_000003.11:g.69998167_69998169del , CM000665.1:g.69998167_69998169del	GRCh37
NC_000003.10:g.70080857_70080859del	NCBI36
NG_011631.1:g.214535_214537del , LRG_776:g.214535_214537del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.715-35_715-33del	ENSP00000324443.5:n.715-35_715-33del
ENST00000687384.1:c.712-35_712-33del	ENSP00000510225.1:n.712-35_712-33del
ENST00000689390.1:n.937-35_937-33del
ENST00000693031.1:c.688-35_688-33del	ENSP00000509845.1:n.688-35_688-33del
ENST00000693549.1:c.715-35_715-33del	ENSP00000509358.1:n.715-35_715-33del
ENST00000314589.10:c.715-35_715-33del	ENSP00000324443.5:n.715-35_715-33del
ENST00000352241.9:c.763-35_763-33del MANE Select	ENSP00000295600.8:n.763-35_763-33del
ENST00000394351.9:c.442-35_442-33del MANE Plus Clinical	ENSP00000377880.3:n.442-35_442-33del
ENST00000448226.9:c.760-35_760-33del	ENSP00000391803.3:n.760-35_760-33del
ENST00000642352.1:c.763-35_763-33del	ENSP00000494105.1:n.763-35_763-33del
ENST00000314557.10:c.442-35_442-33del	ENSP00000324246.6:n.442-35_442-33del
ENST00000314589.9:c.715-35_715-33del	ENSP00000324443.5:n.715-35_715-33del
ENST00000328528.10:c.760-35_760-33del	ENSP00000327867.6:n.760-35_760-33del
ENST00000352241.8:c.763-35_763-33del	ENSP00000295600.7:n.763-35_763-33del
ENST00000394351.7:c.442-35_442-33del	ENSP00000377880.3:n.442-35_442-33del
ENST00000433517.5:c.439-35_439-33del	ENSP00000411389.1:n.439-35_439-33del
ENST00000448226.6:c.763-35_763-33del	ENSP00000391803.2:n.763-35_763-33del
ENST00000451708.5:c.715-35_715-33del	ENSP00000398639.1:n.715-35_715-33del
ENST00000472437.5:c.607-35_607-33del	ENSP00000418845.1:n.607-35_607-33del
ENST00000478490.5:c.*89-35_*89-33del	ENSP00000433487.1:n.*89-35_*89-33del
ENST00000531774.1:c.274-35_274-33del	ENSP00000435909.1:n.274-35_274-33del
NM_000248.3:c.442-35_442-33del , LRG_776t1:c.442-35_442-33del	NP_000239.1:n.442-35_442-33del
NM_001184967.1:c.607-35_607-33del	NP_001171896.1:n.607-35_607-33del
NM_006722.2:c.760-35_760-33del	NP_006713.1:n.760-35_760-33del
NM_198158.2:c.442-35_442-33del	NP_937801.1:n.442-35_442-33del
NM_198159.2:c.763-35_763-33del	NP_937802.1:n.763-35_763-33del
NM_198177.2:c.715-35_715-33del	NP_937820.1:n.715-35_715-33del
NM_198178.2:c.274-35_274-33del	NP_937821.2:n.274-35_274-33del
XM_005264754.1:c.763-35_763-33del	XP_005264811.1:n.763-35_763-33del
XM_005264755.2:c.715-35_715-33del	XP_005264812.1:n.715-35_715-33del
XM_006713164.2:c.607-35_607-33del	XP_006713227.1:n.607-35_607-33del
XM_011533722.1:c.760-35_760-33del	XP_011532024.1:n.760-35_760-33del
XM_011533723.1:c.712-35_712-33del	XP_011532025.1:n.712-35_712-33del
XM_011533724.1:c.607-35_607-33del	XP_011532026.1:n.607-35_607-33del
XM_011533725.1:c.595-35_595-33del	XP_011532027.1:n.595-35_595-33del
XM_011533726.1:c.595-35_595-33del	XP_011532028.1:n.595-35_595-33del
NM_001354604.1:c.763-35_763-33del	NP_001341533.1:n.763-35_763-33del
NM_001354605.1:c.760-35_760-33del	NP_001341534.1:n.760-35_760-33del
NM_001354606.1:c.760-35_760-33del	NP_001341535.1:n.760-35_760-33del
NM_001354607.1:c.712-35_712-33del	NP_001341536.1:n.712-35_712-33del
NM_001354608.1:c.607-35_607-33del	NP_001341537.1:n.607-35_607-33del
NM_001184967.2:c.607-35_607-33del	NP_001171896.1:n.607-35_607-33del
NM_001354604.2:c.763-35_763-33del MANE Select	NP_001341533.1:n.763-35_763-33del
NM_001354605.2:c.760-35_760-33del	NP_001341534.1:n.760-35_760-33del
NM_001354606.2:c.760-35_760-33del	NP_001341535.1:n.760-35_760-33del
NM_001354607.2:c.712-35_712-33del	NP_001341536.1:n.712-35_712-33del
NM_001354608.2:c.607-35_607-33del	NP_001341537.1:n.607-35_607-33del
NM_198158.3:c.442-35_442-33del	NP_937801.1:n.442-35_442-33del
NM_198159.3:c.763-35_763-33del	NP_937802.1:n.763-35_763-33del
NM_198177.3:c.715-35_715-33del	NP_937820.1:n.715-35_715-33del
NM_198178.3:c.274-35_274-33del	NP_937821.2:n.274-35_274-33del
NM_000248.4:c.442-35_442-33del MANE Plus Clinical	NP_000239.1:n.442-35_442-33del
NM_006722.3:c.760-35_760-33del	NP_006713.1:n.760-35_760-33del