Canonical Allele Identifier: CA1747341145

Gene: TBXAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.139962198_139962199delinsCT , CM000669.2:g.139962198_139962199delinsCT	GRCh38
NC_000007.13:g.139661997_139661998delinsCT , CM000669.1:g.139661997_139661998delinsCT	GRCh37
NC_000007.12:g.139308466_139308467delinsCT	NCBI36
NG_008422.2:g.188817_188818delinsCT , LRG_579:g.188817_188818delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336425.10:c.1099_1100delinsCT	ENSP00000338087.7:p.Leu367=
ENST00000411653.6:c.1099_1100delinsCT	ENSP00000411326.3:p.Leu367=
ENST00000422328.6:c.*888_*889delinsCT	ENSP00000415892.3:n.*888_*889delinsCT
ENST00000448866.7:c.1099_1100delinsCT MANE Select	ENSP00000402536.3:p.Leu367=
ENST00000458722.6:c.1237_1238delinsCT	ENSP00000411274.3:p.Leu413=
ENST00000650822.1:c.1102_1103delinsCT	ENSP00000498517.1:p.Leu368=
ENST00000652056.1:c.1102_1103delinsCT	ENSP00000498271.1:p.Leu368=
ENST00000263552.10:c.1102_1103delinsCT	ENSP00000263552.6:p.Leu368=
ENST00000336425.9:c.1099_1100delinsCT	ENSP00000338087.5:p.Leu367=
ENST00000411653.5:c.1099_1100delinsCT	ENSP00000411326.1:p.Leu367=
ENST00000414508.6:c.1102_1103delinsCT	ENSP00000392702.2:p.Leu368=
ENST00000416849.6:c.1240_1241delinsCT	ENSP00000389414.2:p.Leu414=
ENST00000422328.5:c.*888_*889delinsCT	ENSP00000415892.1:n.*888_*889delinsCT
ENST00000425687.5:c.898_899delinsCT	ENSP00000388736.1:p.Leu300=
ENST00000448866.5:c.1099_1100delinsCT	ENSP00000402536.1:p.Leu367=
ENST00000458722.5:c.1237_1238delinsCT	ENSP00000411274.1:p.Leu413=
ENST00000462275.5:n.1070_1071delinsCT
ENST00000469630.1:n.582_583delinsCT
ENST00000494876.1:n.464_465delinsCT
NM_001061.4:c.1102_1103delinsCT	NP_001052.2:p.Leu368=
NM_001130966.2:c.1102_1103delinsCT , LRG_579t1:c.1102_1103delinsCT	NP_001124438.1:p.Leu368=
NM_001166253.1:c.1240_1241delinsCT , LRG_579t4:c.1240_1241delinsCT	NP_001159725.1:p.Leu414=
NM_001166254.1:c.898_899delinsCT , LRG_579t3:c.898_899delinsCT	NP_001159726.1:p.Leu300=
NM_001314028.1:c.1042_1043delinsCT	NP_001300957.1:p.Leu348=
NM_030984.3:c.1102_1103delinsCT , LRG_579t2:c.1102_1103delinsCT	NP_112246.2:p.Leu368=
NR_029394.1:c.-4294965930_-4294965929delinsCT
XM_011516544.1:c.1102_1103delinsCT	XP_011514846.1:p.Leu368=
NM_001061.5:c.1099_1100delinsCT	NP_001052.3:p.Leu367=
NM_001130966.3:c.1099_1100delinsCT	NP_001124438.2:p.Leu367=
NM_001166253.2:c.1237_1238delinsCT	NP_001159725.2:p.Leu413=
NM_001166254.2:c.898_899delinsCT	NP_001159726.1:p.Leu300=
NM_001314028.2:c.1042_1043delinsCT	NP_001300957.1:p.Leu348=
NM_001366537.1:c.916_917delinsCT	NP_001353466.1:p.Leu306=
NM_030984.4:c.1099_1100delinsCT	NP_112246.3:p.Leu367=
XM_011516544.3:c.1102_1103delinsCT	XP_011514846.1:p.Leu368=
XM_017012570.2:c.1102_1103delinsCT	XP_016868059.1:p.Leu368=
XM_017012571.2:c.1102_1103delinsCT	XP_016868060.1:p.Leu368=
XM_017012572.2:c.1102_1103delinsCT	XP_016868061.1:p.Leu368=
XM_024446901.1:c.844_845delinsCT	XP_024302669.1:p.Leu282=
NM_001061.7:c.1099_1100delinsCT MANE Select	NP_001052.3:p.Leu367=
NM_001130966.4:c.1099_1100delinsCT	NP_001124438.2:p.Leu367=
NM_001166253.3:c.1237_1238delinsCT	NP_001159725.2:p.Leu413=
NM_001166254.3:c.898_899delinsCT	NP_001159726.1:p.Leu300=
NM_001314028.3:c.1042_1043delinsCT	NP_001300957.1:p.Leu348=
NM_001366537.2:c.916_917delinsCT	NP_001353466.1:p.Leu306=
NM_030984.5:c.1099_1100delinsCT	NP_112246.3:p.Leu367=
NM_001130966.5:c.1099_1100delinsCT	NP_001124438.2:p.Leu367=
NM_001166253.4:c.1237_1238delinsCT	NP_001159725.2:p.Leu413=
NM_001166254.4:c.898_899delinsCT	NP_001159726.1:p.Leu300=
NM_001314028.4:c.1042_1043delinsCT	NP_001300957.1:p.Leu348=
NM_001366537.3:c.916_917delinsCT	NP_001353466.1:p.Leu306=
NM_030984.6:c.1099_1100delinsCT	NP_112246.3:p.Leu367=