Canonical Allele Identifier: CA2576994699
Gene: TIA1 HGNC NCBI
C2orf42 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70212830_70212833dup , CM000664.2:g.70212830_70212833dup GRCh38
NC_000002.11:g.70439962_70439965dup , CM000664.1:g.70439962_70439965dup GRCh37
NC_000002.10:g.70293466_70293469dup NCBI36
NG_029967.1:g.40815_40818dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000433529.7:c.1047_1050dup (TIA1) MANE Select ENSP00000401371.2:p.Ala351PhefsTer?
ENST00000282574.8:c.1044_1047dup (TIA1) ENSP00000282574.4:p.Ala350PhefsTer?
ENST00000415783.6:c.1014_1017dup (TIA1) ENSP00000404023.2:p.Ala340PhefsTer?
ENST00000433529.6:c.1047_1050dup (TIA1) ENSP00000401371.2:p.Ala351PhefsTer?
ENST00000445587.5:c.744_747dup (TIA1) ENSP00000399567.1:p.Ala250PhefsTer?
ENST00000470096.1:n.212-30836_212-30833dup (C2orf42)
ENST00000486392.5:n.357_360dup (TIA1)
ENST00000495774.1:n.449_452dup (TIA1)
NM_022037.2:c.1014_1017dup (TIA1) NP_071320.2:p.Ala340PhefsTer?
NM_022173.2:c.1047_1050dup (TIA1) NP_071505.2:p.Ala351PhefsTer?
XM_005264527.1:c.1011_1014dup (TIA1) XP_005264584.1:p.Ala339PhefsTer?
XM_005264528.3:c.852_855dup (TIA1) XP_005264585.1:p.Ala286PhefsTer?
XM_005264531.1:c.744_747dup (TIA1) XP_005264588.1:p.Ala250PhefsTer?
XM_011533077.1:c.1044_1047dup (TIA1) XP_011531379.1:p.Ala350PhefsTer?
XM_011533078.1:c.747_750dup (TIA1) XP_011531380.1:p.Ala251PhefsTer?
XM_011533079.1:c.747_750dup (TIA1) XP_011531381.1:p.Ala251PhefsTer?
XM_011533080.1:c.747_750dup (TIA1) XP_011531382.1:p.Ala251PhefsTer?
XM_011533081.1:c.747_750dup (TIA1) XP_011531383.1:p.Ala251PhefsTer?
XM_011533082.1:c.747_750dup (TIA1) XP_011531384.1:p.Ala251PhefsTer?
XM_011533083.1:c.627_630dup (TIA1) XP_011531385.1:p.Ala211PhefsTer?
XR_244955.1:n.1404_1407dup (TIA1)
XR_939714.1:n.1383_1386dup (TIA1)
NM_001351508.1:c.1044_1047dup (TIA1) NP_001338437.1:p.Ala350PhefsTer?
NM_001351509.1:c.1020_1023dup (TIA1) NP_001338438.1:p.Ala342PhefsTer?
NM_001351510.1:c.1011_1014dup (TIA1) NP_001338439.1:p.Ala339PhefsTer?
NM_001351511.1:c.936_939dup (TIA1) NP_001338440.1:p.Ala314PhefsTer?
NM_001351512.1:c.909_912dup (TIA1) NP_001338441.1:p.Ala305PhefsTer?
NM_001351513.1:c.903_906dup (TIA1) NP_001338442.1:p.Ala303PhefsTer?
NM_001351514.1:c.819_822dup (TIA1) NP_001338443.1:p.Ala275PhefsTer?
NM_001351515.1:c.744_747dup (TIA1) NP_001338444.1:p.Ala250PhefsTer?
NM_001351517.1:c.624_627dup (TIA1) NP_001338446.1:p.Ala210PhefsTer?
NM_001351524.1:c.627_630dup (TIA1) NP_001338453.1:p.Ala211PhefsTer?
NM_001351525.1:c.627_630dup (TIA1) NP_001338454.1:p.Ala211PhefsTer?
NM_022037.3:c.1014_1017dup (TIA1) NP_071320.2:p.Ala340PhefsTer?
NM_022173.3:c.1047_1050dup (TIA1) NP_071505.2:p.Ala351PhefsTer?
NR_147216.1:n.1404_1407dup (TIA1)
NR_147217.1:n.1285_1288dup (TIA1)
NR_147218.1:n.1282_1285dup (TIA1)
NR_147219.1:n.1519_1522dup (TIA1)
NR_147220.1:n.1505_1508dup (TIA1)
NR_147221.1:n.1576_1579dup (TIA1)
NR_147222.1:n.1571_1574dup (TIA1)
NR_147223.1:n.1629_1632dup (TIA1)
NR_147224.1:n.1507_1510dup (TIA1)
NR_147225.1:n.1662_1665dup (TIA1)
NR_147226.1:n.1510_1513dup (TIA1)
NR_147227.1:n.1580_1583dup (TIA1)
NR_147228.1:n.1543_1546dup (TIA1)
NR_147229.1:n.1486_1489dup (TIA1)
NR_147230.1:n.1728_1731dup (TIA1)
NR_147231.1:n.1540_1543dup (TIA1)
NR_147232.1:n.1413_1416dup (TIA1)
XM_005264528.5:c.852_855dup (TIA1) XP_005264585.1:p.Ala286PhefsTer?
XM_005264531.2:c.744_747dup (TIA1) XP_005264588.1:p.Ala250PhefsTer?
XM_011533082.2:c.747_750dup (TIA1) XP_011531384.1:p.Ala251PhefsTer?
XM_017004792.1:c.747_750dup (TIA1) XP_016860281.1:p.Ala251PhefsTer?
XM_017004793.2:c.747_750dup (TIA1) XP_016860282.1:p.Ala251PhefsTer?
XM_017004794.1:c.747_750dup (TIA1) XP_016860283.1:p.Ala251PhefsTer?
XM_017004795.1:c.744_747dup (TIA1) XP_016860284.1:p.Ala250PhefsTer?
XM_017004796.1:c.627_630dup (TIA1) XP_016860285.1:p.Ala211PhefsTer?
XM_017004800.1:c.627_630dup (TIA1) XP_016860289.1:p.Ala211PhefsTer?
XM_024453063.1:c.627_630dup (TIA1) XP_024308831.1:p.Ala211PhefsTer?
XM_024453064.1:c.627_630dup (TIA1) XP_024308832.1:p.Ala211PhefsTer?
XM_024453065.1:c.627_630dup (TIA1) XP_024308833.1:p.Ala211PhefsTer?
XM_024453066.1:c.627_630dup (TIA1) XP_024308834.1:p.Ala211PhefsTer?
XM_024453067.1:c.624_627dup (TIA1) XP_024308835.1:p.Ala210PhefsTer?
XR_002959329.1:n.4631_4634dup (TIA1)
XR_002959330.1:n.2465_2468dup (TIA1)
XR_002959331.1:n.4628_4631dup (TIA1)
XR_002959332.1:n.2171_2174dup (TIA1)
NM_022173.4:c.1047_1050dup (TIA1) MANE Select NP_071505.2:p.Ala351PhefsTer?
NM_001351508.2:c.1044_1047dup (TIA1) NP_001338437.1:p.Ala350PhefsTer?
NM_001351509.2:c.1020_1023dup (TIA1) NP_001338438.1:p.Ala342PhefsTer?
NM_001351510.2:c.1011_1014dup (TIA1) NP_001338439.1:p.Ala339PhefsTer?
NM_001351514.2:c.819_822dup (TIA1) NP_001338443.1:p.Ala275PhefsTer?
NM_001351515.2:c.744_747dup (TIA1) NP_001338444.1:p.Ala250PhefsTer?
NM_001351517.2:c.624_627dup (TIA1) NP_001338446.1:p.Ala210PhefsTer?
NM_001351524.2:c.627_630dup (TIA1) NP_001338453.1:p.Ala211PhefsTer?
NM_001351525.2:c.627_630dup (TIA1) NP_001338454.1:p.Ala211PhefsTer?
NM_022037.4:c.1014_1017dup (TIA1) NP_071320.2:p.Ala340PhefsTer?
NR_147219.2:n.1354_1357dup (TIA1)
NR_147220.2:n.1340_1343dup (TIA1)
NR_147221.2:n.1411_1414dup (TIA1)
NR_147222.2:n.1406_1409dup (TIA1)
NR_147223.2:n.1464_1467dup (TIA1)
NR_147224.2:n.1342_1345dup (TIA1)
NR_147225.2:n.1497_1500dup (TIA1)
NR_147226.2:n.1345_1348dup (TIA1)
NR_147227.2:n.1415_1418dup (TIA1)
NR_147228.2:n.1378_1381dup (TIA1)
NR_147229.2:n.1321_1324dup (TIA1)
NR_147230.2:n.1563_1566dup (TIA1)
NR_147231.2:n.1375_1378dup (TIA1)
NR_147232.2:n.1248_1251dup (TIA1)