Canonical Allele Identifier: CA1747341088

Gene: TBXAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.139962076_139962088delinsTGACTGTGGATGA , CM000669.2:g.139962076_139962088delinsTGACTGTGGATGA	GRCh38
NC_000007.13:g.139661875_139661887delinsTGACTGTGGATGA , CM000669.1:g.139661875_139661887delinsTGACTGTGGATGA	GRCh37
NC_000007.12:g.139308344_139308356delinsTGACTGTGGATGA	NCBI36
NG_008422.2:g.188695_188707delinsTGACTGTGGATGA , LRG_579:g.188695_188707delinsTGACTGTGGATGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336425.10:c.977_989delinsTGACTGTGGATGA	ENSP00000338087.7:p.Leu326=
ENST00000411653.6:c.977_989delinsTGACTGTGGATGA	ENSP00000411326.3:p.Leu326=
ENST00000422328.6:c.*766_*778delinsTGACTGTGGATGA	ENSP00000415892.3:n.*766_*778delinsTGACTGTGGATGA
ENST00000448866.7:c.977_989delinsTGACTGTGGATGA MANE Select	ENSP00000402536.3:p.Leu326=
ENST00000458722.6:c.1115_1127delinsTGACTGTGGATGA	ENSP00000411274.3:p.Leu372=
ENST00000650822.1:c.980_992delinsTGACTGTGGATGA	ENSP00000498517.1:p.Leu327=
ENST00000652056.1:c.980_992delinsTGACTGTGGATGA	ENSP00000498271.1:p.Leu327=
ENST00000263552.10:c.980_992delinsTGACTGTGGATGA	ENSP00000263552.6:p.Leu327=
ENST00000336425.9:c.977_989delinsTGACTGTGGATGA	ENSP00000338087.5:p.Leu326=
ENST00000411653.5:c.977_989delinsTGACTGTGGATGA	ENSP00000411326.1:p.Leu326=
ENST00000414508.6:c.980_992delinsTGACTGTGGATGA	ENSP00000392702.2:p.Leu327=
ENST00000416849.6:c.1118_1130delinsTGACTGTGGATGA	ENSP00000389414.2:p.Leu373=
ENST00000422328.5:c.*766_*778delinsTGACTGTGGATGA	ENSP00000415892.1:n.*766_*778delinsTGACTGTGGATGA
ENST00000425687.5:c.776_788delinsTGACTGTGGATGA	ENSP00000388736.1:p.Leu259=
ENST00000448866.5:c.977_989delinsTGACTGTGGATGA	ENSP00000402536.1:p.Leu326=
ENST00000458722.5:c.1115_1127delinsTGACTGTGGATGA	ENSP00000411274.1:p.Leu372=
ENST00000462275.5:n.948_960delinsTGACTGTGGATGA
ENST00000469630.1:n.460_472delinsTGACTGTGGATGA
ENST00000494876.1:n.342_354delinsTGACTGTGGATGA
NM_001061.4:c.980_992delinsTGACTGTGGATGA	NP_001052.2:p.Leu327=
NM_001130966.2:c.980_992delinsTGACTGTGGATGA , LRG_579t1:c.980_992delinsTGACTGTGGATGA	NP_001124438.1:p.Leu327=
NM_001166253.1:c.1118_1130delinsTGACTGTGGATGA , LRG_579t4:c.1118_1130delinsTGACTGTGGATGA	NP_001159725.1:p.Leu373=
NM_001166254.1:c.776_788delinsTGACTGTGGATGA , LRG_579t3:c.776_788delinsTGACTGTGGATGA	NP_001159726.1:p.Leu259=
NM_001314028.1:c.920_932delinsTGACTGTGGATGA	NP_001300957.1:p.Leu307=
NM_030984.3:c.980_992delinsTGACTGTGGATGA , LRG_579t2:c.980_992delinsTGACTGTGGATGA	NP_112246.2:p.Leu327=
NR_029394.1:c.-4294966052_-4294966040delinsTGACTGTGGATGA
XM_011516544.1:c.980_992delinsTGACTGTGGATGA	XP_011514846.1:p.Leu327=
NM_001061.5:c.977_989delinsTGACTGTGGATGA	NP_001052.3:p.Leu326=
NM_001130966.3:c.977_989delinsTGACTGTGGATGA	NP_001124438.2:p.Leu326=
NM_001166253.2:c.1115_1127delinsTGACTGTGGATGA	NP_001159725.2:p.Leu372=
NM_001166254.2:c.776_788delinsTGACTGTGGATGA	NP_001159726.1:p.Leu259=
NM_001314028.2:c.920_932delinsTGACTGTGGATGA	NP_001300957.1:p.Leu307=
NM_001366537.1:c.794_806delinsTGACTGTGGATGA	NP_001353466.1:p.Leu265=
NM_030984.4:c.977_989delinsTGACTGTGGATGA	NP_112246.3:p.Leu326=
XM_011516544.3:c.980_992delinsTGACTGTGGATGA	XP_011514846.1:p.Leu327=
XM_017012570.2:c.980_992delinsTGACTGTGGATGA	XP_016868059.1:p.Leu327=
XM_017012571.2:c.980_992delinsTGACTGTGGATGA	XP_016868060.1:p.Leu327=
XM_017012572.2:c.980_992delinsTGACTGTGGATGA	XP_016868061.1:p.Leu327=
XM_024446901.1:c.722_734delinsTGACTGTGGATGA	XP_024302669.1:p.Leu241=
NM_001061.7:c.977_989delinsTGACTGTGGATGA MANE Select	NP_001052.3:p.Leu326=
NM_001130966.4:c.977_989delinsTGACTGTGGATGA	NP_001124438.2:p.Leu326=
NM_001166253.3:c.1115_1127delinsTGACTGTGGATGA	NP_001159725.2:p.Leu372=
NM_001166254.3:c.776_788delinsTGACTGTGGATGA	NP_001159726.1:p.Leu259=
NM_001314028.3:c.920_932delinsTGACTGTGGATGA	NP_001300957.1:p.Leu307=
NM_001366537.2:c.794_806delinsTGACTGTGGATGA	NP_001353466.1:p.Leu265=
NM_030984.5:c.977_989delinsTGACTGTGGATGA	NP_112246.3:p.Leu326=
NM_001130966.5:c.977_989delinsTGACTGTGGATGA	NP_001124438.2:p.Leu326=
NM_001166253.4:c.1115_1127delinsTGACTGTGGATGA	NP_001159725.2:p.Leu372=
NM_001166254.4:c.776_788delinsTGACTGTGGATGA	NP_001159726.1:p.Leu259=
NM_001314028.4:c.920_932delinsTGACTGTGGATGA	NP_001300957.1:p.Leu307=
NM_001366537.3:c.794_806delinsTGACTGTGGATGA	NP_001353466.1:p.Leu265=
NM_030984.6:c.977_989delinsTGACTGTGGATGA	NP_112246.3:p.Leu326=