Canonical Allele Identifier: CA16042663
Gene: TBXAS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372893
ClinVar RCV Id: RCV000413403
dbSNP Id: rs1057518055

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.139961992_139961997del , CM000669.2:g.139961992_139961997del GRCh38
NC_000007.13:g.139661791_139661796del , CM000669.1:g.139661791_139661796del GRCh37
NC_000007.12:g.139308260_139308265del NCBI36
NG_008422.2:g.188611_188616del , LRG_579:g.188611_188616del

Transcript Alleles

HGVS Amino-acid change
ENST00000336425.10:c.893_898del ENSP00000338087.7:p.Asp298_Ile299del
ENST00000411653.6:c.893_898del ENSP00000411326.3:p.Asp298_Ile299del
ENST00000422328.6:c.*682_*687del ENSP00000415892.3:n.*682_*687del
ENST00000448866.7:c.893_898del MANE Select ENSP00000402536.3:p.Asp298_Ile299del
ENST00000458722.6:c.1031_1036del ENSP00000411274.3:p.Asp344_Ile345del
ENST00000650822.1:c.896_901del ENSP00000498517.1:p.Asp299_Ile300del
ENST00000652056.1:c.896_901del ENSP00000498271.1:p.Asp299_Ile300del
ENST00000263552.10:c.896_901del ENSP00000263552.6:p.Asp299_Ile300del
ENST00000336425.9:c.893_898del ENSP00000338087.5:p.Asp298_Ile299del
ENST00000411653.5:c.893_898del ENSP00000411326.1:p.Asp298_Ile299del
ENST00000414508.6:c.896_901del ENSP00000392702.2:p.Asp299_Ile300del
ENST00000416849.6:c.1034_1039del ENSP00000389414.2:p.Asp345_Ile346del
ENST00000422328.5:c.*682_*687del ENSP00000415892.1:n.*682_*687del
ENST00000425687.5:c.692_697del ENSP00000388736.1:p.Asp231_Ile232del
ENST00000448866.5:c.893_898del ENSP00000402536.1:p.Asp298_Ile299del
ENST00000458722.5:c.1031_1036del ENSP00000411274.1:p.Asp344_Ile345del
ENST00000462275.5:n.864_869del
ENST00000469630.1:n.376_381del
ENST00000494876.1:n.258_263del
NM_001061.4:c.896_901del NP_001052.2:p.Asp299_Ile300del
NM_001130966.2:c.896_901del , LRG_579t1:c.896_901del NP_001124438.1:p.Asp299_Ile300del
NM_001166253.1:c.1034_1039del , LRG_579t4:c.1034_1039del NP_001159725.1:p.Asp345_Ile346del
NM_001166254.1:c.692_697del , LRG_579t3:c.692_697del NP_001159726.1:p.Asp231_Ile232del
NM_001314028.1:c.836_841del NP_001300957.1:p.Asp279_Ile280del
NM_030984.3:c.896_901del , LRG_579t2:c.896_901del NP_112246.2:p.Asp299_Ile300del
NR_029394.1:c.-4294966136_-4294966131del
XM_011516544.1:c.896_901del XP_011514846.1:p.Asp299_Ile300del
NM_001061.5:c.893_898del NP_001052.3:p.Asp298_Ile299del
NM_001130966.3:c.893_898del NP_001124438.2:p.Asp298_Ile299del
NM_001166253.2:c.1031_1036del NP_001159725.2:p.Asp344_Ile345del
NM_001166254.2:c.692_697del NP_001159726.1:p.Asp231_Ile232del
NM_001314028.2:c.836_841del NP_001300957.1:p.Asp279_Ile280del
NM_001366537.1:c.710_715del NP_001353466.1:p.Asp237_Ile238del
NM_030984.4:c.893_898del NP_112246.3:p.Asp298_Ile299del
XM_011516544.3:c.896_901del XP_011514846.1:p.Asp299_Ile300del
XM_017012570.2:c.896_901del XP_016868059.1:p.Asp299_Ile300del
XM_017012571.2:c.896_901del XP_016868060.1:p.Asp299_Ile300del
XM_017012572.2:c.896_901del XP_016868061.1:p.Asp299_Ile300del
XM_024446901.1:c.638_643del XP_024302669.1:p.Asp213_Ile214del
NM_001061.7:c.893_898del MANE Select NP_001052.3:p.Asp298_Ile299del
NM_001130966.4:c.893_898del NP_001124438.2:p.Asp298_Ile299del
NM_001166253.3:c.1031_1036del NP_001159725.2:p.Asp344_Ile345del
NM_001166254.3:c.692_697del NP_001159726.1:p.Asp231_Ile232del
NM_001314028.3:c.836_841del NP_001300957.1:p.Asp279_Ile280del
NM_001366537.2:c.710_715del NP_001353466.1:p.Asp237_Ile238del
NM_030984.5:c.893_898del NP_112246.3:p.Asp298_Ile299del
NM_001130966.5:c.893_898del NP_001124438.2:p.Asp298_Ile299del
NM_001166253.4:c.1031_1036del NP_001159725.2:p.Asp344_Ile345del
NM_001166254.4:c.692_697del NP_001159726.1:p.Asp231_Ile232del
NM_001314028.4:c.836_841del NP_001300957.1:p.Asp279_Ile280del
NM_001366537.3:c.710_715del NP_001353466.1:p.Asp237_Ile238del
NM_030984.6:c.893_898del NP_112246.3:p.Asp298_Ile299del