Canonical Allele Identifier: CA2685190568

Gene: TBXAS1

Linked Data

• gnomAD v4: 7-139962075-TTGAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.139962078_139962081del , CM000669.2:g.139962078_139962081del	GRCh38
NC_000007.13:g.139661877_139661880del , CM000669.1:g.139661877_139661880del	GRCh37
NC_000007.12:g.139308346_139308349del	NCBI36
NG_008422.2:g.188697_188700del , LRG_579:g.188697_188700del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336425.10:c.979_982del	ENSP00000338087.7:p.Thr327TrpfsTer?
ENST00000411653.6:c.979_982del	ENSP00000411326.3:p.Thr327TrpfsTer?
ENST00000422328.6:c.*768_*771del	ENSP00000415892.3:n.*768_*771del
ENST00000448866.7:c.979_982del MANE Select	ENSP00000402536.3:p.Thr327TrpfsTer?
ENST00000458722.6:c.1117_1120del	ENSP00000411274.3:p.Thr373TrpfsTer?
ENST00000650822.1:c.982_985del	ENSP00000498517.1:p.Thr328TrpfsTer?
ENST00000652056.1:c.982_985del	ENSP00000498271.1:p.Thr328TrpfsTer?
ENST00000263552.10:c.982_985del	ENSP00000263552.6:p.Thr328TrpfsTer?
ENST00000336425.9:c.979_982del	ENSP00000338087.5:p.Thr327TrpfsTer?
ENST00000411653.5:c.979_982del	ENSP00000411326.1:p.Thr327TrpfsTer?
ENST00000414508.6:c.982_985del	ENSP00000392702.2:p.Thr328TrpfsTer?
ENST00000416849.6:c.1120_1123del	ENSP00000389414.2:p.Thr374TrpfsTer?
ENST00000422328.5:c.*768_*771del	ENSP00000415892.1:n.*768_*771del
ENST00000425687.5:c.778_781del	ENSP00000388736.1:p.Thr260TrpfsTer?
ENST00000448866.5:c.979_982del	ENSP00000402536.1:p.Thr327TrpfsTer?
ENST00000458722.5:c.1117_1120del	ENSP00000411274.1:p.Thr373TrpfsTer?
ENST00000462275.5:n.950_953del
ENST00000469630.1:n.462_465del
ENST00000494876.1:n.344_347del
NM_001061.4:c.982_985del	NP_001052.2:p.Thr328TrpfsTer?
NM_001130966.2:c.982_985del , LRG_579t1:c.982_985del	NP_001124438.1:p.Thr328TrpfsTer?
NM_001166253.1:c.1120_1123del , LRG_579t4:c.1120_1123del	NP_001159725.1:p.Thr374TrpfsTer?
NM_001166254.1:c.778_781del , LRG_579t3:c.778_781del	NP_001159726.1:p.Thr260TrpfsTer?
NM_001314028.1:c.922_925del	NP_001300957.1:p.Thr308TrpfsTer?
NM_030984.3:c.982_985del , LRG_579t2:c.982_985del	NP_112246.2:p.Thr328TrpfsTer?
NR_029394.1:c.-4294966050_-4294966047del
XM_011516544.1:c.982_985del	XP_011514846.1:p.Thr328TrpfsTer?
NM_001061.5:c.979_982del	NP_001052.3:p.Thr327TrpfsTer?
NM_001130966.3:c.979_982del	NP_001124438.2:p.Thr327TrpfsTer?
NM_001166253.2:c.1117_1120del	NP_001159725.2:p.Thr373TrpfsTer?
NM_001166254.2:c.778_781del	NP_001159726.1:p.Thr260TrpfsTer?
NM_001314028.2:c.922_925del	NP_001300957.1:p.Thr308TrpfsTer?
NM_001366537.1:c.796_799del	NP_001353466.1:p.Thr266TrpfsTer?
NM_030984.4:c.979_982del	NP_112246.3:p.Thr327TrpfsTer?
XM_011516544.3:c.982_985del	XP_011514846.1:p.Thr328TrpfsTer?
XM_017012570.2:c.982_985del	XP_016868059.1:p.Thr328TrpfsTer?
XM_017012571.2:c.982_985del	XP_016868060.1:p.Thr328TrpfsTer?
XM_017012572.2:c.982_985del	XP_016868061.1:p.Thr328TrpfsTer?
XM_024446901.1:c.724_727del	XP_024302669.1:p.Thr242TrpfsTer?
NM_001061.7:c.979_982del MANE Select	NP_001052.3:p.Thr327TrpfsTer?
NM_001130966.4:c.979_982del	NP_001124438.2:p.Thr327TrpfsTer?
NM_001166253.3:c.1117_1120del	NP_001159725.2:p.Thr373TrpfsTer?
NM_001166254.3:c.778_781del	NP_001159726.1:p.Thr260TrpfsTer?
NM_001314028.3:c.922_925del	NP_001300957.1:p.Thr308TrpfsTer?
NM_001366537.2:c.796_799del	NP_001353466.1:p.Thr266TrpfsTer?
NM_030984.5:c.979_982del	NP_112246.3:p.Thr327TrpfsTer?
NM_001130966.5:c.979_982del	NP_001124438.2:p.Thr327TrpfsTer?
NM_001166253.4:c.1117_1120del	NP_001159725.2:p.Thr373TrpfsTer?
NM_001166254.4:c.778_781del	NP_001159726.1:p.Thr260TrpfsTer?
NM_001314028.4:c.922_925del	NP_001300957.1:p.Thr308TrpfsTer?
NM_001366537.3:c.796_799del	NP_001353466.1:p.Thr266TrpfsTer?
NM_030984.6:c.979_982del	NP_112246.3:p.Thr327TrpfsTer?