Canonical Allele Identifier: CA1373447755

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69956467_69956472delinsGAAGAT , CM000665.2:g.69956467_69956472delinsGAAGAT	GRCh38
NC_000003.11:g.70005618_70005623delinsGAAGAT , CM000665.1:g.70005618_70005623delinsGAAGAT	GRCh37
NC_000003.10:g.70088308_70088313delinsGAAGAT	NCBI36
NG_011631.1:g.221986_221991delinsGAAGAT , LRG_776:g.221986_221991delinsGAAGAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000314589.11:c.902_907delinsGAAGAT	ENSP00000324443.5:p.Arg301=
ENST00000687384.1:c.899_904delinsGAAGAT	ENSP00000510225.1:p.Arg300=
ENST00000689390.1:n.1124_1129delinsGAAGAT
ENST00000693031.1:c.875_880delinsGAAGAT	ENSP00000509845.1:p.Arg292=
ENST00000693549.1:c.902_907delinsGAAGAT	ENSP00000509358.1:p.Arg301=
ENST00000314589.10:c.902_907delinsGAAGAT	ENSP00000324443.5:p.Arg301=
ENST00000352241.9:c.968_973delinsGAAGAT MANE Select	ENSP00000295600.8:p.Arg323=
ENST00000394351.9:c.647_652delinsGAAGAT MANE Plus Clinical	ENSP00000377880.3:p.Arg216=
ENST00000448226.9:c.947_952delinsGAAGAT	ENSP00000391803.3:p.Arg316=
ENST00000642352.1:c.950_955delinsGAAGAT	ENSP00000494105.1:p.Arg317=
ENST00000314557.10:c.629_634delinsGAAGAT	ENSP00000324246.6:p.Arg210=
ENST00000314589.9:c.902_907delinsGAAGAT	ENSP00000324443.5:p.Arg301=
ENST00000328528.10:c.947_952delinsGAAGAT	ENSP00000327867.6:p.Arg316=
ENST00000352241.8:c.950_955delinsGAAGAT	ENSP00000295600.7:p.Arg317=
ENST00000394351.7:c.647_652delinsGAAGAT	ENSP00000377880.3:p.Arg216=
ENST00000448226.6:c.968_973delinsGAAGAT	ENSP00000391803.2:p.Arg323=
ENST00000451708.5:c.920_925delinsGAAGAT	ENSP00000398639.1:p.Arg307=
ENST00000472437.5:c.794_799delinsGAAGAT	ENSP00000418845.1:p.Arg265=
ENST00000478490.5:c.*294_*299delinsGAAGAT	ENSP00000433487.1:n.*294_*299delinsGAAGAT...
ENST00000531774.1:c.461_466delinsGAAGAT	ENSP00000435909.1:p.Arg154=
NM_000248.3:c.647_652delinsGAAGAT , LRG_776t1:c.647_652delinsGAAGAT	NP_000239.1:p.Arg216=
NM_001184967.1:c.794_799delinsGAAGAT	NP_001171896.1:p.Arg265=
NM_006722.2:c.947_952delinsGAAGAT	NP_006713.1:p.Arg316=
NM_198158.2:c.629_634delinsGAAGAT	NP_937801.1:p.Arg210=
NM_198159.2:c.950_955delinsGAAGAT	NP_937802.1:p.Arg317=
NM_198177.2:c.902_907delinsGAAGAT	NP_937820.1:p.Arg301=
NM_198178.2:c.461_466delinsGAAGAT	NP_937821.2:p.Arg154=
XM_005264754.1:c.968_973delinsGAAGAT	XP_005264811.1:p.Arg323=
XM_005264755.2:c.920_925delinsGAAGAT	XP_005264812.1:p.Arg307=
XM_006713164.2:c.812_817delinsGAAGAT	XP_006713227.1:p.Arg271=
XM_011533722.1:c.965_970delinsGAAGAT	XP_011532024.1:p.Arg322=
XM_011533723.1:c.917_922delinsGAAGAT	XP_011532025.1:p.Arg306=
XM_011533724.1:c.812_817delinsGAAGAT	XP_011532026.1:p.Arg271=
XM_011533725.1:c.800_805delinsGAAGAT	XP_011532027.1:p.Arg267=
XM_011533726.1:c.782_787delinsGAAGAT	XP_011532028.1:p.Arg261=
NM_001354604.1:c.968_973delinsGAAGAT	NP_001341533.1:p.Arg323=
NM_001354605.1:c.965_970delinsGAAGAT	NP_001341534.1:p.Arg322=
NM_001354606.1:c.947_952delinsGAAGAT	NP_001341535.1:p.Arg316=
NM_001354607.1:c.899_904delinsGAAGAT	NP_001341536.1:p.Arg300=
NM_001354608.1:c.794_799delinsGAAGAT	NP_001341537.1:p.Arg265=
NM_001184967.2:c.794_799delinsGAAGAT	NP_001171896.1:p.Arg265=
NM_001354604.2:c.968_973delinsGAAGAT MANE Select	NP_001341533.1:p.Arg323=
NM_001354605.2:c.965_970delinsGAAGAT	NP_001341534.1:p.Arg322=
NM_001354606.2:c.947_952delinsGAAGAT	NP_001341535.1:p.Arg316=
NM_001354607.2:c.899_904delinsGAAGAT	NP_001341536.1:p.Arg300=
NM_001354608.2:c.794_799delinsGAAGAT	NP_001341537.1:p.Arg265=
NM_198158.3:c.629_634delinsGAAGAT	NP_937801.1:p.Arg210=
NM_198159.3:c.950_955delinsGAAGAT	NP_937802.1:p.Arg317=
NM_198177.3:c.902_907delinsGAAGAT	NP_937820.1:p.Arg301=
NM_198178.3:c.461_466delinsGAAGAT	NP_937821.2:p.Arg154=
NM_000248.4:c.647_652delinsGAAGAT MANE Plus Clinical	NP_000239.1:p.Arg216=
NM_006722.3:c.947_952delinsGAAGAT	NP_006713.1:p.Arg316=