Canonical Allele Identifier: CA1747366662
Gene: TBXAS1 HGNC NCBI

Linked Data

dbSNP Id: rs1815184612

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.140017670_140017672del , CM000669.2:g.140017670_140017672del GRCh38
NC_000007.13:g.139717470_139717472del , CM000669.1:g.139717470_139717472del GRCh37
NC_000007.12:g.139363939_139363941del NCBI36
NG_008422.2:g.244289_244291del , LRG_579:g.244289_244291del

Transcript Alleles

HGVS Amino-acid change
ENST00000336425.10:c.1365-1_1366del
ENST00000411653.6:c.1364+1810_1364+1812del ENSP00000411326.3:n.1364+1810_1364+1812de...
ENST00000422328.6:c.*1154-1_*1155del
ENST00000448866.7:c.1365-1_1366del
ENST00000458722.6:c.1503-1_1504del
ENST00000650822.1:c.1368-1_1369del
ENST00000652056.1:c.1367+1810_1367+1812del ENSP00000498271.1:n.1367+1810_1367+1812de...
ENST00000263552.10:c.1368-1_1369del
ENST00000336425.9:c.1365-1_1366del
ENST00000411653.5:c.1364+1810_1364+1812del ENSP00000411326.1:n.1364+1810_1364+1812de...
ENST00000414508.6:c.1367+1810_1367+1812del ENSP00000392702.2:n.1367+1810_1367+1812de...
ENST00000416849.6:c.1506-1_1507del
ENST00000422328.5:c.*1154-1_*1155del
ENST00000425687.5:c.1164-1_1165del
ENST00000448866.5:c.1365-1_1366del
ENST00000458722.5:c.1503-1_1504del
NM_001061.4:c.1368-1_1369del
NM_001130966.2:c.1368-1_1369del , LRG_579t1:c.1368-1_1369del
NM_001166253.1:c.1506-1_1507del , LRG_579t4:c.1506-1_1507del
NM_001166254.1:c.1164-1_1165del , LRG_579t3:c.1164-1_1165del
NM_001314028.1:c.1308-1_1309del
NM_030984.3:c.1367+1810_1367+1812del , LRG_579t2:c.1367+1810_1367+1812del NP_112246.2:n.1367+1810_1367+1812del
NR_029394.1:c.-4294965664-1_-4294965663del
NM_001061.5:c.1365-1_1366del
NM_001130966.3:c.1365-1_1366del
NM_001166253.2:c.1503-1_1504del
NM_001166254.2:c.1164-1_1165del
NM_001314028.2:c.1308-1_1309del
NM_001366537.1:c.1182-1_1183del
NM_030984.4:c.1364+1810_1364+1812del NP_112246.3:n.1364+1810_1364+1812del
XM_024446901.1:c.1110-1_1111del
NM_001061.7:c.1365-1_1366del
NM_001130966.4:c.1365-1_1366del
NM_001166253.3:c.1503-1_1504del
NM_001166254.3:c.1164-1_1165del
NM_001314028.3:c.1308-1_1309del
NM_001366537.2:c.1182-1_1183del
NM_030984.5:c.1364+1810_1364+1812del NP_112246.3:n.1364+1810_1364+1812del
NM_001130966.5:c.1365-1_1366del
NM_001166253.4:c.1503-1_1504del
NM_001166254.4:c.1164-1_1165del
NM_001314028.4:c.1308-1_1309del
NM_001366537.3:c.1182-1_1183del
NM_030984.6:c.1364+1810_1364+1812del NP_112246.3:n.1364+1810_1364+1812del