Canonical Allele Identifier: CA2579039958

Gene: TBXAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.139961987_139961988insG , CM000669.2:g.139961987_139961988insG	GRCh38
NC_000007.13:g.139661786_139661787insG , CM000669.1:g.139661786_139661787insG	GRCh37
NC_000007.12:g.139308255_139308256insG	NCBI36
NG_008422.2:g.188606_188607insG , LRG_579:g.188606_188607insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336425.10:c.888_889insG	ENSP00000338087.7:p.Phe297ValfsTer2
ENST00000411653.6:c.888_889insG	ENSP00000411326.3:p.Phe297ValfsTer2
ENST00000422328.6:c.*677_*678insG	ENSP00000415892.3:n.*677_*678insG
ENST00000448866.7:c.888_889insG MANE Select	ENSP00000402536.3:p.Phe297ValfsTer2
ENST00000458722.6:c.1026_1027insG	ENSP00000411274.3:p.Phe343ValfsTer2
ENST00000650822.1:c.891_892insG	ENSP00000498517.1:p.Phe298ValfsTer2
ENST00000652056.1:c.891_892insG	ENSP00000498271.1:p.Phe298ValfsTer2
ENST00000263552.10:c.891_892insG	ENSP00000263552.6:p.Phe298ValfsTer2
ENST00000336425.9:c.888_889insG	ENSP00000338087.5:p.Phe297ValfsTer2
ENST00000411653.5:c.888_889insG	ENSP00000411326.1:p.Phe297ValfsTer2
ENST00000414508.6:c.891_892insG	ENSP00000392702.2:p.Phe298ValfsTer2
ENST00000416849.6:c.1029_1030insG	ENSP00000389414.2:p.Phe344ValfsTer2
ENST00000422328.5:c.*677_*678insG	ENSP00000415892.1:n.*677_*678insG
ENST00000425687.5:c.687_688insG	ENSP00000388736.1:p.Phe230ValfsTer2
ENST00000448866.5:c.888_889insG	ENSP00000402536.1:p.Phe297ValfsTer2
ENST00000458722.5:c.1026_1027insG	ENSP00000411274.1:p.Phe343ValfsTer2
ENST00000462275.5:n.859_860insG
ENST00000469630.1:n.371_372insG
ENST00000494876.1:n.253_254insG
NM_001061.4:c.891_892insG	NP_001052.2:p.Phe298ValfsTer2
NM_001130966.2:c.891_892insG , LRG_579t1:c.891_892insG	NP_001124438.1:p.Phe298ValfsTer2
NM_001166253.1:c.1029_1030insG , LRG_579t4:c.1029_1030insG	NP_001159725.1:p.Phe344ValfsTer2
NM_001166254.1:c.687_688insG , LRG_579t3:c.687_688insG	NP_001159726.1:p.Phe230ValfsTer2
NM_001314028.1:c.831_832insG	NP_001300957.1:p.Phe278ValfsTer2
NM_030984.3:c.891_892insG , LRG_579t2:c.891_892insG	NP_112246.2:p.Phe298ValfsTer2
NR_029394.1:c.-4294966141_-4294966140insG
XM_011516544.1:c.891_892insG	XP_011514846.1:p.Phe298ValfsTer2
NM_001061.5:c.888_889insG	NP_001052.3:p.Phe297ValfsTer2
NM_001130966.3:c.888_889insG	NP_001124438.2:p.Phe297ValfsTer2
NM_001166253.2:c.1026_1027insG	NP_001159725.2:p.Phe343ValfsTer2
NM_001166254.2:c.687_688insG	NP_001159726.1:p.Phe230ValfsTer2
NM_001314028.2:c.831_832insG	NP_001300957.1:p.Phe278ValfsTer2
NM_001366537.1:c.705_706insG	NP_001353466.1:p.Phe236ValfsTer2
NM_030984.4:c.888_889insG	NP_112246.3:p.Phe297ValfsTer2
XM_011516544.3:c.891_892insG	XP_011514846.1:p.Phe298ValfsTer2
XM_017012570.2:c.891_892insG	XP_016868059.1:p.Phe298ValfsTer2
XM_017012571.2:c.891_892insG	XP_016868060.1:p.Phe298ValfsTer2
XM_017012572.2:c.891_892insG	XP_016868061.1:p.Phe298ValfsTer2
XM_024446901.1:c.633_634insG	XP_024302669.1:p.Phe212ValfsTer2
NM_001061.7:c.888_889insG MANE Select	NP_001052.3:p.Phe297ValfsTer2
NM_001130966.4:c.888_889insG	NP_001124438.2:p.Phe297ValfsTer2
NM_001166253.3:c.1026_1027insG	NP_001159725.2:p.Phe343ValfsTer2
NM_001166254.3:c.687_688insG	NP_001159726.1:p.Phe230ValfsTer2
NM_001314028.3:c.831_832insG	NP_001300957.1:p.Phe278ValfsTer2
NM_001366537.2:c.705_706insG	NP_001353466.1:p.Phe236ValfsTer2
NM_030984.5:c.888_889insG	NP_112246.3:p.Phe297ValfsTer2
NM_001130966.5:c.888_889insG	NP_001124438.2:p.Phe297ValfsTer2
NM_001166253.4:c.1026_1027insG	NP_001159725.2:p.Phe343ValfsTer2
NM_001166254.4:c.687_688insG	NP_001159726.1:p.Phe230ValfsTer2
NM_001314028.4:c.831_832insG	NP_001300957.1:p.Phe278ValfsTer2
NM_001366537.3:c.705_706insG	NP_001353466.1:p.Phe236ValfsTer2
NM_030984.6:c.888_889insG	NP_112246.3:p.Phe297ValfsTer2