Canonical Allele Identifier: CA2580070418
Community Standard Title: NM_001354604.2(MITF):c.1056_1064delinsTATCTTAAG (p.Lys355Arg)
Gene: MITF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69959297_69959305delinsTATCTTAAG , CM000665.2:g.69959297_69959305delinsTATCTTAAG GRCh38
NC_000003.11:g.70008448_70008456delinsTATCTTAAG , CM000665.1:g.70008448_70008456delinsTATCTTAAG GRCh37
NC_000003.10:g.70091138_70091146delinsTATCTTAAG NCBI36
NG_011631.1:g.224816_224824delinsTATCTTAAG , LRG_776:g.224816_224824delinsTATCTTAAG

Transcript Alleles

HGVS Amino-acid Change
NM_001354604.2:c.1056_1064delinsTATCTTAAG MANE Select NP_001341533.1:p.Lys355Arg
ENST00000352241.9:c.1056_1064delinsTATCTTAAG MANE Select ENSP00000295600.8:p.Lys355Arg
NM_000248.4:c.735_743delinsTATCTTAAG MANE Plus Clinical NP_000239.1:p.Lys248Arg
ENST00000394351.9:c.735_743delinsTATCTTAAG MANE Plus Clinical ENSP00000377880.3:p.Lys248Arg
NM_000248.3:c.735_743delinsTATCTTAAG , LRG_776t1:c.735_743delinsTATCTTAAG NP_000239.1:p.Lys248Arg
NM_001184967.1:c.882_890delinsTATCTTAAG NP_001171896.1:p.Lys297Arg
NM_001184967.2:c.882_890delinsTATCTTAAG NP_001171896.1:p.Lys297Arg
NM_001354604.1:c.1056_1064delinsTATCTTAAG NP_001341533.1:p.Lys355Arg
NM_001354605.1:c.1053_1061delinsTATCTTAAG NP_001341534.1:p.Lys354Arg
NM_001354605.2:c.1053_1061delinsTATCTTAAG NP_001341534.1:p.Lys354Arg
NM_001354606.1:c.1035_1043delinsTATCTTAAG NP_001341535.1:p.Lys348Arg
NM_001354606.2:c.1035_1043delinsTATCTTAAG NP_001341535.1:p.Lys348Arg
NM_001354607.1:c.987_995delinsTATCTTAAG NP_001341536.1:p.Lys332Arg
NM_001354607.2:c.987_995delinsTATCTTAAG NP_001341536.1:p.Lys332Arg
NM_001354608.1:c.882_890delinsTATCTTAAG NP_001341537.1:p.Lys297Arg
NM_001354608.2:c.882_890delinsTATCTTAAG NP_001341537.1:p.Lys297Arg
NM_006722.2:c.1035_1043delinsTATCTTAAG NP_006713.1:p.Lys348Arg
NM_006722.3:c.1035_1043delinsTATCTTAAG NP_006713.1:p.Lys348Arg
NM_198158.2:c.717_725delinsTATCTTAAG NP_937801.1:p.Lys242Arg
NM_198158.3:c.717_725delinsTATCTTAAG NP_937801.1:p.Lys242Arg
NM_198159.2:c.1038_1046delinsTATCTTAAG NP_937802.1:p.Lys349Arg
NM_198159.3:c.1038_1046delinsTATCTTAAG NP_937802.1:p.Lys349Arg
NM_198177.2:c.990_998delinsTATCTTAAG NP_937820.1:p.Lys333Arg
NM_198177.3:c.990_998delinsTATCTTAAG NP_937820.1:p.Lys333Arg
NM_198178.2:c.549_557delinsTATCTTAAG NP_937821.2:p.Lys186Arg
NM_198178.3:c.549_557delinsTATCTTAAG NP_937821.2:p.Lys186Arg
ENST00000314557.10:c.717_725delinsTATCTTAAG ENSP00000324246.6:p.Lys242Arg
ENST00000314589.10:c.990_998delinsTATCTTAAG ENSP00000324443.5:p.Lys333Arg
ENST00000314589.11:c.990_998delinsTATCTTAAG ENSP00000324443.5:p.Lys333Arg
ENST00000314589.9:c.990_998delinsTATCTTAAG ENSP00000324443.5:p.Lys333Arg
ENST00000328528.10:c.1035_1043delinsTATCTTAAG ENSP00000327867.6:p.Lys348Arg
ENST00000352241.8:c.1038_1046delinsTATCTTAAG ENSP00000295600.7:p.Lys349Arg
ENST00000394351.7:c.735_743delinsTATCTTAAG ENSP00000377880.3:p.Lys248Arg
ENST00000448226.6:c.1056_1064delinsTATCTTAAG ENSP00000391803.2:p.Lys355Arg
ENST00000448226.9:c.1035_1043delinsTATCTTAAG ENSP00000391803.3:p.Lys348Arg
ENST00000451708.5:c.1008_1016delinsTATCTTAAG ENSP00000398639.1:p.Lys339Arg
ENST00000472437.5:c.882_890delinsTATCTTAAG ENSP00000418845.1:p.Lys297Arg
ENST00000478490.5:c.*382_*390delinsTATCTTAAG ENSP00000433487.1:n.*382_*390delinsTATCTTAAG
ENST00000531774.1:c.549_557delinsTATCTTAAG ENSP00000435909.1:p.Lys186Arg
ENST00000642352.1:c.1038_1046delinsTATCTTAAG ENSP00000494105.1:p.Lys349Arg
ENST00000687384.1:c.987_995delinsTATCTTAAG ENSP00000510225.1:p.Lys332Arg
ENST00000689390.1:n.1212_1220delinsTATCTTAAG
ENST00000693031.1:c.963_971delinsTATCTTAAG ENSP00000509845.1:p.Lys324Arg
ENST00000693549.1:c.990_998delinsTATCTTAAG ENSP00000509358.1:p.Lys333Arg
XM_005264754.1:c.1056_1064delinsTATCTTAAG XP_005264811.1:p.Lys355Arg
XM_005264755.2:c.1008_1016delinsTATCTTAAG XP_005264812.1:p.Lys339Arg
XM_006713164.2:c.900_908delinsTATCTTAAG XP_006713227.1:p.Lys303Arg
XM_011533722.1:c.1053_1061delinsTATCTTAAG XP_011532024.1:p.Lys354Arg
XM_011533723.1:c.1005_1013delinsTATCTTAAG XP_011532025.1:p.Lys338Arg
XM_011533724.1:c.900_908delinsTATCTTAAG XP_011532026.1:p.Lys303Arg
XM_011533725.1:c.888_896delinsTATCTTAAG XP_011532027.1:p.Lys299Arg
XM_011533726.1:c.870_878delinsTATCTTAAG XP_011532028.1:p.Lys293Arg