Canonical Allele Identifier: CA1747318396

Gene: TBXAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.139911163_139911164delinsCT , CM000669.2:g.139911163_139911164delinsCT	GRCh38
NC_000007.13:g.139610962_139610963delinsCT , CM000669.1:g.139610962_139610963delinsCT	GRCh37
NC_000007.12:g.139257431_139257432delinsCT	NCBI36
NG_008422.2:g.137782_137783delinsCT , LRG_579:g.137782_137783delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336425.10:c.237-62_237-61delinsCT	ENSP00000338087.7:n.237-62_237-61delinsCT
ENST00000411653.6:c.237-62_237-61delinsCT	ENSP00000411326.3:n.237-62_237-61delinsCT
ENST00000414041.2:c.*92-62_*92-61delinsCT	ENSP00000412710.3:n.*92-62_*92-61delinsCT
ENST00000422328.6:c.*26-62_*26-61delinsCT	ENSP00000415892.3:n.*26-62_*26-61delinsCT
ENST00000438104.6:c.237-62_237-61delinsCT	ENSP00000388612.3:n.237-62_237-61delinsCT
ENST00000448866.7:c.237-62_237-61delinsCT MANE Select	ENSP00000402536.3:n.237-62_237-61delinsCT
ENST00000455353.6:c.237-62_237-61delinsCT	ENSP00000391567.3:n.237-62_237-61delinsCT
ENST00000458722.6:c.237-62_237-61delinsCT	ENSP00000411274.3:n.237-62_237-61delinsCT
ENST00000650822.1:c.240-62_240-61delinsCT	ENSP00000498517.1:n.240-62_240-61delinsCT
ENST00000652056.1:c.240-62_240-61delinsCT	ENSP00000498271.1:n.240-62_240-61delinsCT
ENST00000263552.10:c.240-62_240-61delinsCT	ENSP00000263552.6:n.240-62_240-61delinsCT
ENST00000336425.9:c.237-62_237-61delinsCT	ENSP00000338087.5:n.237-62_237-61delinsCT
ENST00000411653.5:c.237-62_237-61delinsCT	ENSP00000411326.1:n.237-62_237-61delinsCT
ENST00000414041.1:c.*92-62_*92-61delinsCT	ENSP00000412710.1:n.*92-62_*92-61delinsCT
ENST00000414508.6:c.240-62_240-61delinsCT	ENSP00000392702.2:n.240-62_240-61delinsCT
ENST00000416849.6:c.240-62_240-61delinsCT	ENSP00000389414.2:n.240-62_240-61delinsCT
ENST00000422328.5:c.*26-62_*26-61delinsCT	ENSP00000415892.1:n.*26-62_*26-61delinsCT
ENST00000425687.5:c.36-62_36-61delinsCT	ENSP00000388736.1:n.36-62_36-61delinsCT
ENST00000438104.5:c.237-62_237-61delinsCT	ENSP00000388612.1:n.237-62_237-61delinsCT
ENST00000448866.5:c.237-62_237-61delinsCT	ENSP00000402536.1:n.237-62_237-61delinsCT
ENST00000455353.5:c.237-62_237-61delinsCT	ENSP00000391567.1:n.237-62_237-61delinsCT
ENST00000458722.5:c.237-62_237-61delinsCT	ENSP00000411274.1:n.237-62_237-61delinsCT
ENST00000462275.5:n.208-62_208-61delinsCT
ENST00000476637.5:n.357-25028_357-25027delinsCT
NM_001061.4:c.240-62_240-61delinsCT	NP_001052.2:n.240-62_240-61delinsCT
NM_001130966.2:c.240-62_240-61delinsCT , LRG_579t1:c.240-62_240-61delinsCT	NP_001124438.1:n.240-62_240-61delinsCT
NM_001166253.1:c.240-62_240-61delinsCT , LRG_579t4:c.240-62_240-61delinsCT	NP_001159725.1:n.240-62_240-61delinsCT
NM_001166254.1:c.36-62_36-61delinsCT , LRG_579t3:c.36-62_36-61delinsCT	NP_001159726.1:n.36-62_36-61delinsCT
NM_001314028.1:c.180-62_180-61delinsCT	NP_001300957.1:n.180-62_180-61delinsCT
NM_030984.3:c.240-62_240-61delinsCT , LRG_579t2:c.240-62_240-61delinsCT	NP_112246.2:n.240-62_240-61delinsCT
NR_029394.1:c.-4294966792-62_-4294966792-61delinsCT
XM_011516544.1:c.240-62_240-61delinsCT	XP_011514846.1:n.240-62_240-61delinsCT
NM_001061.5:c.237-62_237-61delinsCT	NP_001052.3:n.237-62_237-61delinsCT
NM_001130966.3:c.237-62_237-61delinsCT	NP_001124438.2:n.237-62_237-61delinsCT
NM_001166253.2:c.237-62_237-61delinsCT	NP_001159725.2:n.237-62_237-61delinsCT
NM_001166254.2:c.36-62_36-61delinsCT	NP_001159726.1:n.36-62_36-61delinsCT
NM_001314028.2:c.180-62_180-61delinsCT	NP_001300957.1:n.180-62_180-61delinsCT
NM_001366537.1:c.151-25028_151-25027delinsCT	NP_001353466.1:n.151-25028_151-25027delinsCT
NM_001366538.1:c.237-62_237-61delinsCT	NP_001353467.1:n.237-62_237-61delinsCT
NM_030984.4:c.237-62_237-61delinsCT	NP_112246.3:n.237-62_237-61delinsCT
XM_011516544.3:c.240-62_240-61delinsCT	XP_011514846.1:n.240-62_240-61delinsCT
XM_017012570.2:c.240-62_240-61delinsCT	XP_016868059.1:n.240-62_240-61delinsCT
XM_017012571.2:c.240-62_240-61delinsCT	XP_016868060.1:n.240-62_240-61delinsCT
XM_017012572.2:c.240-62_240-61delinsCT	XP_016868061.1:n.240-62_240-61delinsCT
XM_024446901.1:c.-19-62_-19-61delinsCT	XP_024302669.1:n.-19-62_-19-61delinsCT
NM_001061.7:c.237-62_237-61delinsCT MANE Select	NP_001052.3:n.237-62_237-61delinsCT
NM_001130966.4:c.237-62_237-61delinsCT	NP_001124438.2:n.237-62_237-61delinsCT
NM_001166253.3:c.237-62_237-61delinsCT	NP_001159725.2:n.237-62_237-61delinsCT
NM_001166254.3:c.36-62_36-61delinsCT	NP_001159726.1:n.36-62_36-61delinsCT
NM_001314028.3:c.180-62_180-61delinsCT	NP_001300957.1:n.180-62_180-61delinsCT
NM_001366537.2:c.151-25028_151-25027delinsCT	NP_001353466.1:n.151-25028_151-25027delinsCT
NM_001366538.2:c.237-62_237-61delinsCT	NP_001353467.1:n.237-62_237-61delinsCT
NM_030984.5:c.237-62_237-61delinsCT	NP_112246.3:n.237-62_237-61delinsCT
NM_001130966.5:c.237-62_237-61delinsCT	NP_001124438.2:n.237-62_237-61delinsCT
NM_001166253.4:c.237-62_237-61delinsCT	NP_001159725.2:n.237-62_237-61delinsCT
NM_001166254.4:c.36-62_36-61delinsCT	NP_001159726.1:n.36-62_36-61delinsCT
NM_001314028.4:c.180-62_180-61delinsCT	NP_001300957.1:n.180-62_180-61delinsCT
NM_001366537.3:c.151-25028_151-25027delinsCT	NP_001353466.1:n.151-25028_151-25027delinsCT
NM_030984.6:c.237-62_237-61delinsCT	NP_112246.3:n.237-62_237-61delinsCT