Canonical Allele Identifier: CA1747341091

Gene: TBXAS1

Linked Data

• dbSNP Id: rs1810407586
• gnomAD v4: 7-139962083-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.139962083_139962084insA , CM000669.2:g.139962083_139962084insA	GRCh38
NC_000007.13:g.139661882_139661883insA , CM000669.1:g.139661882_139661883insA	GRCh37
NC_000007.12:g.139308351_139308352insA	NCBI36
NG_008422.2:g.188702_188703insA , LRG_579:g.188702_188703insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336425.10:c.984_985insA	ENSP00000338087.7:p.Asp329ArgfsTer2
ENST00000411653.6:c.984_985insA	ENSP00000411326.3:p.Asp329ArgfsTer2
ENST00000422328.6:c.*773_*774insA	ENSP00000415892.3:n.*773_*774insA
ENST00000448866.7:c.984_985insA MANE Select	ENSP00000402536.3:p.Asp329ArgfsTer2
ENST00000458722.6:c.1122_1123insA	ENSP00000411274.3:p.Asp375ArgfsTer2
ENST00000650822.1:c.987_988insA	ENSP00000498517.1:p.Asp330ArgfsTer2
ENST00000652056.1:c.987_988insA	ENSP00000498271.1:p.Asp330ArgfsTer2
ENST00000263552.10:c.987_988insA	ENSP00000263552.6:p.Asp330ArgfsTer2
ENST00000336425.9:c.984_985insA	ENSP00000338087.5:p.Asp329ArgfsTer2
ENST00000411653.5:c.984_985insA	ENSP00000411326.1:p.Asp329ArgfsTer2
ENST00000414508.6:c.987_988insA	ENSP00000392702.2:p.Asp330ArgfsTer2
ENST00000416849.6:c.1125_1126insA	ENSP00000389414.2:p.Asp376ArgfsTer2
ENST00000422328.5:c.*773_*774insA	ENSP00000415892.1:n.*773_*774insA
ENST00000425687.5:c.783_784insA	ENSP00000388736.1:p.Asp262ArgfsTer2
ENST00000448866.5:c.984_985insA	ENSP00000402536.1:p.Asp329ArgfsTer2
ENST00000458722.5:c.1122_1123insA	ENSP00000411274.1:p.Asp375ArgfsTer2
ENST00000462275.5:n.955_956insA
ENST00000469630.1:n.467_468insA
ENST00000494876.1:n.349_350insA
NM_001061.4:c.987_988insA	NP_001052.2:p.Asp330ArgfsTer2
NM_001130966.2:c.987_988insA , LRG_579t1:c.987_988insA	NP_001124438.1:p.Asp330ArgfsTer2
NM_001166253.1:c.1125_1126insA , LRG_579t4:c.1125_1126insA	NP_001159725.1:p.Asp376ArgfsTer2
NM_001166254.1:c.783_784insA , LRG_579t3:c.783_784insA	NP_001159726.1:p.Asp262ArgfsTer2
NM_001314028.1:c.927_928insA	NP_001300957.1:p.Asp310ArgfsTer2
NM_030984.3:c.987_988insA , LRG_579t2:c.987_988insA	NP_112246.2:p.Asp330ArgfsTer2
NR_029394.1:c.-4294966045_-4294966044insA
XM_011516544.1:c.987_988insA	XP_011514846.1:p.Asp330ArgfsTer2
NM_001061.5:c.984_985insA	NP_001052.3:p.Asp329ArgfsTer2
NM_001130966.3:c.984_985insA	NP_001124438.2:p.Asp329ArgfsTer2
NM_001166253.2:c.1122_1123insA	NP_001159725.2:p.Asp375ArgfsTer2
NM_001166254.2:c.783_784insA	NP_001159726.1:p.Asp262ArgfsTer2
NM_001314028.2:c.927_928insA	NP_001300957.1:p.Asp310ArgfsTer2
NM_001366537.1:c.801_802insA	NP_001353466.1:p.Asp268ArgfsTer2
NM_030984.4:c.984_985insA	NP_112246.3:p.Asp329ArgfsTer2
XM_011516544.3:c.987_988insA	XP_011514846.1:p.Asp330ArgfsTer2
XM_017012570.2:c.987_988insA	XP_016868059.1:p.Asp330ArgfsTer2
XM_017012571.2:c.987_988insA	XP_016868060.1:p.Asp330ArgfsTer2
XM_017012572.2:c.987_988insA	XP_016868061.1:p.Asp330ArgfsTer2
XM_024446901.1:c.729_730insA	XP_024302669.1:p.Asp244ArgfsTer2
NM_001061.7:c.984_985insA MANE Select	NP_001052.3:p.Asp329ArgfsTer2
NM_001130966.4:c.984_985insA	NP_001124438.2:p.Asp329ArgfsTer2
NM_001166253.3:c.1122_1123insA	NP_001159725.2:p.Asp375ArgfsTer2
NM_001166254.3:c.783_784insA	NP_001159726.1:p.Asp262ArgfsTer2
NM_001314028.3:c.927_928insA	NP_001300957.1:p.Asp310ArgfsTer2
NM_001366537.2:c.801_802insA	NP_001353466.1:p.Asp268ArgfsTer2
NM_030984.5:c.984_985insA	NP_112246.3:p.Asp329ArgfsTer2
NM_001130966.5:c.984_985insA	NP_001124438.2:p.Asp329ArgfsTer2
NM_001166253.4:c.1122_1123insA	NP_001159725.2:p.Asp375ArgfsTer2
NM_001166254.4:c.783_784insA	NP_001159726.1:p.Asp262ArgfsTer2
NM_001314028.4:c.927_928insA	NP_001300957.1:p.Asp310ArgfsTer2
NM_001366537.3:c.801_802insA	NP_001353466.1:p.Asp268ArgfsTer2
NM_030984.6:c.984_985insA	NP_112246.3:p.Asp329ArgfsTer2