Canonical Allele Identifier: CA645372387

Gene: MITF

Linked Data

• ClinVar Variation Id: 14272
• ClinVar RCV Id: RCV000015342 ; RCV000498643 ; RCV000826199 ; RCV001290155 ; RCV001785452
• dbSNP Id: rs1553704814
• gnomAD v4: 3-69956460-CGAA-C
• MyVariant Identifiers: chr3:g.70005620_70005622del (hg19) ; chr3:g.69956469_69956471del (hg38)
• PubMed: PMID:8589691 ; PMID:9546825 ; PMID:13985019 ; PMID:18510545 ; PMID:27889061

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69956469_69956471del , CM000665.2:g.69956469_69956471del	GRCh38
NC_000003.11:g.70005620_70005622del , CM000665.1:g.70005620_70005622del	GRCh37
NC_000003.10:g.70088310_70088312del	NCBI36
NG_011631.1:g.221988_221990del , LRG_776:g.221988_221990del

Transcript Alleles

HGVS	Amino-acid change
ENST00000314589.11:c.904_906del	ENSP00000324443.5:p.Arg302del
ENST00000687384.1:c.901_903del	ENSP00000510225.1:p.Arg301del
ENST00000689390.1:n.1126_1128del
ENST00000693031.1:c.877_879del	ENSP00000509845.1:p.Arg293del
ENST00000693549.1:c.904_906del	ENSP00000509358.1:p.Arg302del
ENST00000314589.10:c.904_906del	ENSP00000324443.5:p.Arg302del
ENST00000352241.9:c.970_972del MANE Select	ENSP00000295600.8:p.Arg324del
ENST00000394351.9:c.649_651del MANE Plus Clinical	ENSP00000377880.3:p.Arg217del
ENST00000448226.9:c.949_951del	ENSP00000391803.3:p.Arg317del
ENST00000642352.1:c.952_954del	ENSP00000494105.1:p.Arg318del
ENST00000314557.10:c.631_633del	ENSP00000324246.6:p.Arg211del
ENST00000314589.9:c.904_906del	ENSP00000324443.5:p.Arg302del
ENST00000328528.10:c.949_951del	ENSP00000327867.6:p.Arg317del
ENST00000352241.8:c.952_954del	ENSP00000295600.7:p.Arg318del
ENST00000394351.7:c.649_651del	ENSP00000377880.3:p.Arg217del
ENST00000448226.6:c.970_972del	ENSP00000391803.2:p.Arg324del
ENST00000451708.5:c.922_924del	ENSP00000398639.1:p.Arg308del
ENST00000472437.5:c.796_798del	ENSP00000418845.1:p.Arg266del
ENST00000478490.5:c.*296_*298del	ENSP00000433487.1:n.*296_*298del
ENST00000531774.1:c.463_465del	ENSP00000435909.1:p.Arg155del
NM_000248.3:c.649_651del , LRG_776t1:c.649_651del	NP_000239.1:p.Arg217del
NM_001184967.1:c.796_798del	NP_001171896.1:p.Arg266del
NM_006722.2:c.949_951del	NP_006713.1:p.Arg317del
NM_198158.2:c.631_633del	NP_937801.1:p.Arg211del
NM_198159.2:c.952_954del	NP_937802.1:p.Arg318del
NM_198177.2:c.904_906del	NP_937820.1:p.Arg302del
NM_198178.2:c.463_465del	NP_937821.2:p.Arg155del
XM_005264754.1:c.970_972del	XP_005264811.1:p.Arg324del
XM_005264755.2:c.922_924del	XP_005264812.1:p.Arg308del
XM_006713164.2:c.814_816del	XP_006713227.1:p.Arg272del
XM_011533722.1:c.967_969del	XP_011532024.1:p.Arg323del
XM_011533723.1:c.919_921del	XP_011532025.1:p.Arg307del
XM_011533724.1:c.814_816del	XP_011532026.1:p.Arg272del
XM_011533725.1:c.802_804del	XP_011532027.1:p.Arg268del
XM_011533726.1:c.784_786del	XP_011532028.1:p.Arg262del
NM_001354604.1:c.970_972del	NP_001341533.1:p.Arg324del
NM_001354605.1:c.967_969del	NP_001341534.1:p.Arg323del
NM_001354606.1:c.949_951del	NP_001341535.1:p.Arg317del
NM_001354607.1:c.901_903del	NP_001341536.1:p.Arg301del
NM_001354608.1:c.796_798del	NP_001341537.1:p.Arg266del
NM_001184967.2:c.796_798del	NP_001171896.1:p.Arg266del
NM_001354604.2:c.970_972del MANE Select	NP_001341533.1:p.Arg324del
NM_001354605.2:c.967_969del	NP_001341534.1:p.Arg323del
NM_001354606.2:c.949_951del	NP_001341535.1:p.Arg317del
NM_001354607.2:c.901_903del	NP_001341536.1:p.Arg301del
NM_001354608.2:c.796_798del	NP_001341537.1:p.Arg266del
NM_198158.3:c.631_633del	NP_937801.1:p.Arg211del
NM_198159.3:c.952_954del	NP_937802.1:p.Arg318del
NM_198177.3:c.904_906del	NP_937820.1:p.Arg302del
NM_198178.3:c.463_465del	NP_937821.2:p.Arg155del
NM_000248.4:c.649_651del MANE Plus Clinical	NP_000239.1:p.Arg217del
NM_006722.3:c.949_951del	NP_006713.1:p.Arg317del