Canonical Allele Identifier: CA2580067717

Gene: TIA1 C2orf42

Linked Data

• ClinVar Variation Id: 2019552
• ClinVar RCV Id: RCV002847189

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70212783dup , CM000664.2:g.70212783dup	GRCh38
NC_000002.11:g.70439915dup , CM000664.1:g.70439915dup	GRCh37
NC_000002.10:g.70293419dup	NCBI36
NG_029967.1:g.40868dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433529.7:c.1100dup (TIA1) MANE Select	ENSP00000401371.2:p.Asn367LysfsTer18
ENST00000282574.8:c.1097dup (TIA1)	ENSP00000282574.4:p.Asn366LysfsTer18
ENST00000415783.6:c.1067dup (TIA1)	ENSP00000404023.2:p.Asn356LysfsTer18
ENST00000433529.6:c.1100dup (TIA1)	ENSP00000401371.2:p.Asn367LysfsTer18
ENST00000445587.5:c.797dup (TIA1)	ENSP00000399567.1:p.Asn266LysfsTer18
ENST00000470096.1:n.212-30783dup (C2orf42)
ENST00000486392.5:n.410dup (TIA1)
ENST00000495774.1:n.502dup (TIA1)
NM_022037.2:c.1067dup (TIA1)	NP_071320.2:p.Asn356LysfsTer18
NM_022173.2:c.1100dup (TIA1)	NP_071505.2:p.Asn367LysfsTer18
XM_005264527.1:c.1064dup (TIA1)	XP_005264584.1:p.Asn355LysfsTer18
XM_005264528.3:c.905dup (TIA1)	XP_005264585.1:p.Asn302LysfsTer18
XM_005264531.1:c.797dup (TIA1)	XP_005264588.1:p.Asn266LysfsTer18
XM_011533077.1:c.1097dup (TIA1)	XP_011531379.1:p.Asn366LysfsTer18
XM_011533078.1:c.800dup (TIA1)	XP_011531380.1:p.Asn267LysfsTer18
XM_011533079.1:c.800dup (TIA1)	XP_011531381.1:p.Asn267LysfsTer18
XM_011533080.1:c.800dup (TIA1)	XP_011531382.1:p.Asn267LysfsTer18
XM_011533081.1:c.800dup (TIA1)	XP_011531383.1:p.Asn267LysfsTer18
XM_011533082.1:c.800dup (TIA1)	XP_011531384.1:p.Asn267LysfsTer18
XM_011533083.1:c.680dup (TIA1)	XP_011531385.1:p.Asn227LysfsTer18
XR_244955.1:n.1457dup (TIA1)
XR_939714.1:n.1436dup (TIA1)
NM_001351508.1:c.1097dup (TIA1)	NP_001338437.1:p.Asn366LysfsTer18
NM_001351509.1:c.1073dup (TIA1)	NP_001338438.1:p.Asn358LysfsTer18
NM_001351510.1:c.1064dup (TIA1)	NP_001338439.1:p.Asn355LysfsTer18
NM_001351511.1:c.989dup (TIA1)	NP_001338440.1:p.Asn330LysfsTer18
NM_001351512.1:c.962dup (TIA1)	NP_001338441.1:p.Asn321LysfsTer18
NM_001351513.1:c.956dup (TIA1)	NP_001338442.1:p.Asn319LysfsTer18
NM_001351514.1:c.872dup (TIA1)	NP_001338443.1:p.Asn291LysfsTer18
NM_001351515.1:c.797dup (TIA1)	NP_001338444.1:p.Asn266LysfsTer18
NM_001351517.1:c.677dup (TIA1)	NP_001338446.1:p.Asn226LysfsTer18
NM_001351524.1:c.680dup (TIA1)	NP_001338453.1:p.Asn227LysfsTer18
NM_001351525.1:c.680dup (TIA1)	NP_001338454.1:p.Asn227LysfsTer18
NM_022037.3:c.1067dup (TIA1)	NP_071320.2:p.Asn356LysfsTer18
NM_022173.3:c.1100dup (TIA1)	NP_071505.2:p.Asn367LysfsTer18
NR_147216.1:n.1457dup (TIA1)
NR_147217.1:n.1338dup (TIA1)
NR_147218.1:n.1335dup (TIA1)
NR_147219.1:n.1572dup (TIA1)
NR_147220.1:n.1558dup (TIA1)
NR_147221.1:n.1629dup (TIA1)
NR_147222.1:n.1624dup (TIA1)
NR_147223.1:n.1682dup (TIA1)
NR_147224.1:n.1560dup (TIA1)
NR_147225.1:n.1715dup (TIA1)
NR_147226.1:n.1563dup (TIA1)
NR_147227.1:n.1633dup (TIA1)
NR_147228.1:n.1596dup (TIA1)
NR_147229.1:n.1539dup (TIA1)
NR_147230.1:n.1781dup (TIA1)
NR_147231.1:n.1593dup (TIA1)
NR_147232.1:n.1466dup (TIA1)
XM_005264528.5:c.905dup (TIA1)	XP_005264585.1:p.Asn302LysfsTer18
XM_005264531.2:c.797dup (TIA1)	XP_005264588.1:p.Asn266LysfsTer18
XM_011533082.2:c.800dup (TIA1)	XP_011531384.1:p.Asn267LysfsTer18
XM_017004792.1:c.800dup (TIA1)	XP_016860281.1:p.Asn267LysfsTer18
XM_017004793.2:c.800dup (TIA1)	XP_016860282.1:p.Asn267LysfsTer18
XM_017004794.1:c.800dup (TIA1)	XP_016860283.1:p.Asn267LysfsTer18
XM_017004795.1:c.797dup (TIA1)	XP_016860284.1:p.Asn266LysfsTer18
XM_017004796.1:c.680dup (TIA1)	XP_016860285.1:p.Asn227LysfsTer18
XM_017004800.1:c.680dup (TIA1)	XP_016860289.1:p.Asn227LysfsTer18
XM_024453063.1:c.680dup (TIA1)	XP_024308831.1:p.Asn227LysfsTer18
XM_024453064.1:c.680dup (TIA1)	XP_024308832.1:p.Asn227LysfsTer18
XM_024453065.1:c.680dup (TIA1)	XP_024308833.1:p.Asn227LysfsTer18
XM_024453066.1:c.680dup (TIA1)	XP_024308834.1:p.Asn227LysfsTer18
XM_024453067.1:c.677dup (TIA1)	XP_024308835.1:p.Asn226LysfsTer18
XR_002959329.1:n.4684dup (TIA1)
XR_002959330.1:n.2518dup (TIA1)
XR_002959331.1:n.4681dup (TIA1)
XR_002959332.1:n.2224dup (TIA1)
NM_022173.4:c.1100dup (TIA1) MANE Select	NP_071505.2:p.Asn367LysfsTer18
NM_001351508.2:c.1097dup (TIA1)	NP_001338437.1:p.Asn366LysfsTer18
NM_001351509.2:c.1073dup (TIA1)	NP_001338438.1:p.Asn358LysfsTer18
NM_001351510.2:c.1064dup (TIA1)	NP_001338439.1:p.Asn355LysfsTer18
NM_001351514.2:c.872dup (TIA1)	NP_001338443.1:p.Asn291LysfsTer18
NM_001351515.2:c.797dup (TIA1)	NP_001338444.1:p.Asn266LysfsTer18
NM_001351517.2:c.677dup (TIA1)	NP_001338446.1:p.Asn226LysfsTer18
NM_001351524.2:c.680dup (TIA1)	NP_001338453.1:p.Asn227LysfsTer18
NM_001351525.2:c.680dup (TIA1)	NP_001338454.1:p.Asn227LysfsTer18
NM_022037.4:c.1067dup (TIA1)	NP_071320.2:p.Asn356LysfsTer18
NR_147219.2:n.1407dup (TIA1)
NR_147220.2:n.1393dup (TIA1)
NR_147221.2:n.1464dup (TIA1)
NR_147222.2:n.1459dup (TIA1)
NR_147223.2:n.1517dup (TIA1)
NR_147224.2:n.1395dup (TIA1)
NR_147225.2:n.1550dup (TIA1)
NR_147226.2:n.1398dup (TIA1)
NR_147227.2:n.1468dup (TIA1)
NR_147228.2:n.1431dup (TIA1)
NR_147229.2:n.1374dup (TIA1)
NR_147230.2:n.1616dup (TIA1)
NR_147231.2:n.1428dup (TIA1)
NR_147232.2:n.1301dup (TIA1)