Canonical Allele Identifier: CA1697423

Gene: TIA1 C2orf42

Linked Data

• dbSNP Id: rs761639780
• ExAC: 2:70440025 TAAA / T
• gnomAD v2: 2-70440025-TAAA-T
• gnomAD v3: 2-70212893-TAAA-T
• gnomAD v4: 2-70212893-TAAA-T
• MyVariant Identifiers: chr2:g.70440026_70440028del (hg19) ; chr2:g.70212894_70212896del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70212895_70212897del , CM000664.2:g.70212895_70212897del	GRCh38
NC_000002.11:g.70440027_70440029del , CM000664.1:g.70440027_70440029del	GRCh37
NC_000002.10:g.70293531_70293533del	NCBI36
NG_029967.1:g.40752_40754del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433529.7:c.1035-51_1035-49del (TIA1) MANE Select	ENSP00000401371.2:n.1035-51_1035-49del
ENST00000282574.8:c.1032-51_1032-49del (TIA1)	ENSP00000282574.4:n.1032-51_1032-49del
ENST00000415783.6:c.1002-51_1002-49del (TIA1)	ENSP00000404023.2:n.1002-51_1002-49del
ENST00000433529.6:c.1035-51_1035-49del (TIA1)	ENSP00000401371.2:n.1035-51_1035-49del
ENST00000445587.5:c.732-51_732-49del (TIA1)	ENSP00000399567.1:n.732-51_732-49del
ENST00000470096.1:n.212-30899_212-30897del (C2orf42)
ENST00000486392.5:n.345-51_345-49del (TIA1)
ENST00000495774.1:n.437-51_437-49del (TIA1)
NM_022037.2:c.1002-51_1002-49del (TIA1)	NP_071320.2:n.1002-51_1002-49del
NM_022173.2:c.1035-51_1035-49del (TIA1)	NP_071505.2:n.1035-51_1035-49del
XM_005264527.1:c.999-51_999-49del (TIA1)	XP_005264584.1:n.999-51_999-49del
XM_005264528.3:c.840-51_840-49del (TIA1)	XP_005264585.1:n.840-51_840-49del
XM_005264531.1:c.732-51_732-49del (TIA1)	XP_005264588.1:n.732-51_732-49del
XM_011533077.1:c.1032-51_1032-49del (TIA1)	XP_011531379.1:n.1032-51_1032-49del
XM_011533078.1:c.735-51_735-49del (TIA1)	XP_011531380.1:n.735-51_735-49del
XM_011533079.1:c.735-51_735-49del (TIA1)	XP_011531381.1:n.735-51_735-49del
XM_011533080.1:c.735-51_735-49del (TIA1)	XP_011531382.1:n.735-51_735-49del
XM_011533081.1:c.735-51_735-49del (TIA1)	XP_011531383.1:n.735-51_735-49del
XM_011533082.1:c.735-51_735-49del (TIA1)	XP_011531384.1:n.735-51_735-49del
XM_011533083.1:c.615-51_615-49del (TIA1)	XP_011531385.1:n.615-51_615-49del
XR_244955.1:n.1392-51_1392-49del (TIA1)
XR_939714.1:n.1371-51_1371-49del (TIA1)
NM_001351508.1:c.1032-51_1032-49del (TIA1)	NP_001338437.1:n.1032-51_1032-49del
NM_001351509.1:c.1008-51_1008-49del (TIA1)	NP_001338438.1:n.1008-51_1008-49del
NM_001351510.1:c.999-51_999-49del (TIA1)	NP_001338439.1:n.999-51_999-49del
NM_001351511.1:c.924-51_924-49del (TIA1)	NP_001338440.1:n.924-51_924-49del
NM_001351512.1:c.897-51_897-49del (TIA1)	NP_001338441.1:n.897-51_897-49del
NM_001351513.1:c.891-51_891-49del (TIA1)	NP_001338442.1:n.891-51_891-49del
NM_001351514.1:c.807-51_807-49del (TIA1)	NP_001338443.1:n.807-51_807-49del
NM_001351515.1:c.732-51_732-49del (TIA1)	NP_001338444.1:n.732-51_732-49del
NM_001351517.1:c.612-51_612-49del (TIA1)	NP_001338446.1:n.612-51_612-49del
NM_001351524.1:c.615-51_615-49del (TIA1)	NP_001338453.1:n.615-51_615-49del
NM_001351525.1:c.615-51_615-49del (TIA1)	NP_001338454.1:n.615-51_615-49del
NM_022037.3:c.1002-51_1002-49del (TIA1)	NP_071320.2:n.1002-51_1002-49del
NM_022173.3:c.1035-51_1035-49del (TIA1)	NP_071505.2:n.1035-51_1035-49del
NR_147216.1:n.1392-51_1392-49del (TIA1)
NR_147217.1:n.1273-51_1273-49del (TIA1)
NR_147218.1:n.1270-51_1270-49del (TIA1)
NR_147219.1:n.1507-51_1507-49del (TIA1)
NR_147220.1:n.1493-51_1493-49del (TIA1)
NR_147221.1:n.1564-51_1564-49del (TIA1)
NR_147222.1:n.1559-51_1559-49del (TIA1)
NR_147223.1:n.1617-51_1617-49del (TIA1)
NR_147224.1:n.1495-51_1495-49del (TIA1)
NR_147225.1:n.1650-51_1650-49del (TIA1)
NR_147226.1:n.1498-51_1498-49del (TIA1)
NR_147227.1:n.1568-51_1568-49del (TIA1)
NR_147228.1:n.1531-51_1531-49del (TIA1)
NR_147229.1:n.1474-51_1474-49del (TIA1)
NR_147230.1:n.1716-51_1716-49del (TIA1)
NR_147231.1:n.1528-51_1528-49del (TIA1)
NR_147232.1:n.1401-51_1401-49del (TIA1)
XM_005264528.5:c.840-51_840-49del (TIA1)	XP_005264585.1:n.840-51_840-49del
XM_005264531.2:c.732-51_732-49del (TIA1)	XP_005264588.1:n.732-51_732-49del
XM_011533082.2:c.735-51_735-49del (TIA1)	XP_011531384.1:n.735-51_735-49del
XM_017004792.1:c.735-51_735-49del (TIA1)	XP_016860281.1:n.735-51_735-49del
XM_017004793.2:c.735-51_735-49del (TIA1)	XP_016860282.1:n.735-51_735-49del
XM_017004794.1:c.735-51_735-49del (TIA1)	XP_016860283.1:n.735-51_735-49del
XM_017004795.1:c.732-51_732-49del (TIA1)	XP_016860284.1:n.732-51_732-49del
XM_017004796.1:c.615-51_615-49del (TIA1)	XP_016860285.1:n.615-51_615-49del
XM_017004800.1:c.615-51_615-49del (TIA1)	XP_016860289.1:n.615-51_615-49del
XM_024453063.1:c.615-51_615-49del (TIA1)	XP_024308831.1:n.615-51_615-49del
XM_024453064.1:c.615-51_615-49del (TIA1)	XP_024308832.1:n.615-51_615-49del
XM_024453065.1:c.615-51_615-49del (TIA1)	XP_024308833.1:n.615-51_615-49del
XM_024453066.1:c.615-51_615-49del (TIA1)	XP_024308834.1:n.615-51_615-49del
XM_024453067.1:c.612-51_612-49del (TIA1)	XP_024308835.1:n.612-51_612-49del
XR_002959329.1:n.4619-51_4619-49del (TIA1)
XR_002959330.1:n.2453-51_2453-49del (TIA1)
XR_002959331.1:n.4616-51_4616-49del (TIA1)
XR_002959332.1:n.2159-51_2159-49del (TIA1)
NM_022173.4:c.1035-51_1035-49del (TIA1) MANE Select	NP_071505.2:n.1035-51_1035-49del
NM_001351508.2:c.1032-51_1032-49del (TIA1)	NP_001338437.1:n.1032-51_1032-49del
NM_001351509.2:c.1008-51_1008-49del (TIA1)	NP_001338438.1:n.1008-51_1008-49del
NM_001351510.2:c.999-51_999-49del (TIA1)	NP_001338439.1:n.999-51_999-49del
NM_001351514.2:c.807-51_807-49del (TIA1)	NP_001338443.1:n.807-51_807-49del
NM_001351515.2:c.732-51_732-49del (TIA1)	NP_001338444.1:n.732-51_732-49del
NM_001351517.2:c.612-51_612-49del (TIA1)	NP_001338446.1:n.612-51_612-49del
NM_001351524.2:c.615-51_615-49del (TIA1)	NP_001338453.1:n.615-51_615-49del
NM_001351525.2:c.615-51_615-49del (TIA1)	NP_001338454.1:n.615-51_615-49del
NM_022037.4:c.1002-51_1002-49del (TIA1)	NP_071320.2:n.1002-51_1002-49del
NR_147219.2:n.1342-51_1342-49del (TIA1)
NR_147220.2:n.1328-51_1328-49del (TIA1)
NR_147221.2:n.1399-51_1399-49del (TIA1)
NR_147222.2:n.1394-51_1394-49del (TIA1)
NR_147223.2:n.1452-51_1452-49del (TIA1)
NR_147224.2:n.1330-51_1330-49del (TIA1)
NR_147225.2:n.1485-51_1485-49del (TIA1)
NR_147226.2:n.1333-51_1333-49del (TIA1)
NR_147227.2:n.1403-51_1403-49del (TIA1)
NR_147228.2:n.1366-51_1366-49del (TIA1)
NR_147229.2:n.1309-51_1309-49del (TIA1)
NR_147230.2:n.1551-51_1551-49del (TIA1)
NR_147231.2:n.1363-51_1363-49del (TIA1)
NR_147232.2:n.1236-51_1236-49del (TIA1)