Canonical Allele Identifier: CA1747341085

Gene: TBXAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.139962071_139962080delinsGCCTTTGACT , CM000669.2:g.139962071_139962080delinsGCCTTTGACT	GRCh38
NC_000007.13:g.139661870_139661879delinsGCCTTTGACT , CM000669.1:g.139661870_139661879delinsGCCTTTGACT	GRCh37
NC_000007.12:g.139308339_139308348delinsGCCTTTGACT	NCBI36
NG_008422.2:g.188690_188699delinsGCCTTTGACT , LRG_579:g.188690_188699delinsGCCTTTGACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336425.10:c.972_981delinsGCCTTTGACT	ENSP00000338087.7:p.Arg324=
ENST00000411653.6:c.972_981delinsGCCTTTGACT	ENSP00000411326.3:p.Arg324=
ENST00000422328.6:c.*761_*770delinsGCCTTTGACT	ENSP00000415892.3:n.*761_*770delinsGCCTTTGACT
ENST00000448866.7:c.972_981delinsGCCTTTGACT MANE Select	ENSP00000402536.3:p.Arg324=
ENST00000458722.6:c.1110_1119delinsGCCTTTGACT	ENSP00000411274.3:p.Arg370=
ENST00000650822.1:c.975_984delinsGCCTTTGACT	ENSP00000498517.1:p.Arg325=
ENST00000652056.1:c.975_984delinsGCCTTTGACT	ENSP00000498271.1:p.Arg325=
ENST00000263552.10:c.975_984delinsGCCTTTGACT	ENSP00000263552.6:p.Arg325=
ENST00000336425.9:c.972_981delinsGCCTTTGACT	ENSP00000338087.5:p.Arg324=
ENST00000411653.5:c.972_981delinsGCCTTTGACT	ENSP00000411326.1:p.Arg324=
ENST00000414508.6:c.975_984delinsGCCTTTGACT	ENSP00000392702.2:p.Arg325=
ENST00000416849.6:c.1113_1122delinsGCCTTTGACT	ENSP00000389414.2:p.Arg371=
ENST00000422328.5:c.*761_*770delinsGCCTTTGACT	ENSP00000415892.1:n.*761_*770delinsGCCTTTGACT
ENST00000425687.5:c.771_780delinsGCCTTTGACT	ENSP00000388736.1:p.Arg257=
ENST00000448866.5:c.972_981delinsGCCTTTGACT	ENSP00000402536.1:p.Arg324=
ENST00000458722.5:c.1110_1119delinsGCCTTTGACT	ENSP00000411274.1:p.Arg370=
ENST00000462275.5:n.943_952delinsGCCTTTGACT
ENST00000469630.1:n.455_464delinsGCCTTTGACT
ENST00000494876.1:n.337_346delinsGCCTTTGACT
NM_001061.4:c.975_984delinsGCCTTTGACT	NP_001052.2:p.Arg325=
NM_001130966.2:c.975_984delinsGCCTTTGACT , LRG_579t1:c.975_984delinsGCCTTTGACT	NP_001124438.1:p.Arg325=
NM_001166253.1:c.1113_1122delinsGCCTTTGACT , LRG_579t4:c.1113_1122delinsGCCTTTGACT	NP_001159725.1:p.Arg371=
NM_001166254.1:c.771_780delinsGCCTTTGACT , LRG_579t3:c.771_780delinsGCCTTTGACT	NP_001159726.1:p.Arg257=
NM_001314028.1:c.915_924delinsGCCTTTGACT	NP_001300957.1:p.Arg305=
NM_030984.3:c.975_984delinsGCCTTTGACT , LRG_579t2:c.975_984delinsGCCTTTGACT	NP_112246.2:p.Arg325=
NR_029394.1:c.-4294966057_-4294966048delinsGCCTTTGACT
XM_011516544.1:c.975_984delinsGCCTTTGACT	XP_011514846.1:p.Arg325=
NM_001061.5:c.972_981delinsGCCTTTGACT	NP_001052.3:p.Arg324=
NM_001130966.3:c.972_981delinsGCCTTTGACT	NP_001124438.2:p.Arg324=
NM_001166253.2:c.1110_1119delinsGCCTTTGACT	NP_001159725.2:p.Arg370=
NM_001166254.2:c.771_780delinsGCCTTTGACT	NP_001159726.1:p.Arg257=
NM_001314028.2:c.915_924delinsGCCTTTGACT	NP_001300957.1:p.Arg305=
NM_001366537.1:c.789_798delinsGCCTTTGACT	NP_001353466.1:p.Arg263=
NM_030984.4:c.972_981delinsGCCTTTGACT	NP_112246.3:p.Arg324=
XM_011516544.3:c.975_984delinsGCCTTTGACT	XP_011514846.1:p.Arg325=
XM_017012570.2:c.975_984delinsGCCTTTGACT	XP_016868059.1:p.Arg325=
XM_017012571.2:c.975_984delinsGCCTTTGACT	XP_016868060.1:p.Arg325=
XM_017012572.2:c.975_984delinsGCCTTTGACT	XP_016868061.1:p.Arg325=
XM_024446901.1:c.717_726delinsGCCTTTGACT	XP_024302669.1:p.Arg239=
NM_001061.7:c.972_981delinsGCCTTTGACT MANE Select	NP_001052.3:p.Arg324=
NM_001130966.4:c.972_981delinsGCCTTTGACT	NP_001124438.2:p.Arg324=
NM_001166253.3:c.1110_1119delinsGCCTTTGACT	NP_001159725.2:p.Arg370=
NM_001166254.3:c.771_780delinsGCCTTTGACT	NP_001159726.1:p.Arg257=
NM_001314028.3:c.915_924delinsGCCTTTGACT	NP_001300957.1:p.Arg305=
NM_001366537.2:c.789_798delinsGCCTTTGACT	NP_001353466.1:p.Arg263=
NM_030984.5:c.972_981delinsGCCTTTGACT	NP_112246.3:p.Arg324=
NM_001130966.5:c.972_981delinsGCCTTTGACT	NP_001124438.2:p.Arg324=
NM_001166253.4:c.1110_1119delinsGCCTTTGACT	NP_001159725.2:p.Arg370=
NM_001166254.4:c.771_780delinsGCCTTTGACT	NP_001159726.1:p.Arg257=
NM_001314028.4:c.915_924delinsGCCTTTGACT	NP_001300957.1:p.Arg305=
NM_001366537.3:c.789_798delinsGCCTTTGACT	NP_001353466.1:p.Arg263=
NM_030984.6:c.972_981delinsGCCTTTGACT	NP_112246.3:p.Arg324=