Canonical Allele Identifier: CA1747341258

Gene: TBXAS1

Linked Data

• dbSNP Id: rs1810447826

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.139962449_139962450del , CM000669.2:g.139962449_139962450del	GRCh38
NC_000007.13:g.139662248_139662249del , CM000669.1:g.139662248_139662249del	GRCh37
NC_000007.12:g.139308717_139308718del	NCBI36
NG_008422.2:g.189068_189069del , LRG_579:g.189068_189069del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336425.10:c.1134+216_1134+217del	ENSP00000338087.7:n.1134+216_1134+217del
ENST00000411653.6:c.1134+216_1134+217del	ENSP00000411326.3:n.1134+216_1134+217del
ENST00000422328.6:c.*923+216_*923+217del	ENSP00000415892.3:n.*923+216_*923+217del
ENST00000448866.7:c.1134+216_1134+217del MANE Select	ENSP00000402536.3:n.1134+216_1134+217del
ENST00000458722.6:c.1272+216_1272+217del	ENSP00000411274.3:n.1272+216_1272+217del
ENST00000650822.1:c.1137+216_1137+217del	ENSP00000498517.1:n.1137+216_1137+217del
ENST00000652056.1:c.1137+216_1137+217del	ENSP00000498271.1:n.1137+216_1137+217del
ENST00000263552.10:c.1137+216_1137+217del	ENSP00000263552.6:n.1137+216_1137+217del
ENST00000336425.9:c.1134+216_1134+217del	ENSP00000338087.5:n.1134+216_1134+217del
ENST00000411653.5:c.1134+216_1134+217del	ENSP00000411326.1:n.1134+216_1134+217del
ENST00000414508.6:c.1137+216_1137+217del	ENSP00000392702.2:n.1137+216_1137+217del
ENST00000416849.6:c.1275+216_1275+217del	ENSP00000389414.2:n.1275+216_1275+217del
ENST00000422328.5:c.*923+216_*923+217del	ENSP00000415892.1:n.*923+216_*923+217del
ENST00000425687.5:c.933+216_933+217del	ENSP00000388736.1:n.933+216_933+217del
ENST00000448866.5:c.1134+216_1134+217del	ENSP00000402536.1:n.1134+216_1134+217del
ENST00000458722.5:c.1272+216_1272+217del	ENSP00000411274.1:n.1272+216_1272+217del
ENST00000462275.5:n.1105+216_1105+217del
ENST00000469630.1:n.833_834del
NM_001061.4:c.1137+216_1137+217del	NP_001052.2:n.1137+216_1137+217del
NM_001130966.2:c.1137+216_1137+217del , LRG_579t1:c.1137+216_1137+217del	NP_001124438.1:n.1137+216_1137+217del
NM_001166253.1:c.1275+216_1275+217del , LRG_579t4:c.1275+216_1275+217del	NP_001159725.1:n.1275+216_1275+217del
NM_001166254.1:c.933+216_933+217del , LRG_579t3:c.933+216_933+217del	NP_001159726.1:n.933+216_933+217del
NM_001314028.1:c.1077+216_1077+217del	NP_001300957.1:n.1077+216_1077+217del
NM_030984.3:c.1137+216_1137+217del , LRG_579t2:c.1137+216_1137+217del	NP_112246.2:n.1137+216_1137+217del
NR_029394.1:c.-4294965895+216_-4294965895+217del
XM_011516544.1:c.1137+216_1137+217del	XP_011514846.1:n.1137+216_1137+217del
NM_001061.5:c.1134+216_1134+217del	NP_001052.3:n.1134+216_1134+217del
NM_001130966.3:c.1134+216_1134+217del	NP_001124438.2:n.1134+216_1134+217del
NM_001166253.2:c.1272+216_1272+217del	NP_001159725.2:n.1272+216_1272+217del
NM_001166254.2:c.933+216_933+217del	NP_001159726.1:n.933+216_933+217del
NM_001314028.2:c.1077+216_1077+217del	NP_001300957.1:n.1077+216_1077+217del
NM_001366537.1:c.951+216_951+217del	NP_001353466.1:n.951+216_951+217del
NM_030984.4:c.1134+216_1134+217del	NP_112246.3:n.1134+216_1134+217del
XM_011516544.3:c.1137+216_1137+217del	XP_011514846.1:n.1137+216_1137+217del
XM_017012570.2:c.1137+216_1137+217del	XP_016868059.1:n.1137+216_1137+217del
XM_017012571.2:c.1137+216_1137+217del	XP_016868060.1:n.1137+216_1137+217del
XM_017012572.2:c.1137+216_1137+217del	XP_016868061.1:n.1137+216_1137+217del
XM_024446901.1:c.879+216_879+217del	XP_024302669.1:n.879+216_879+217del
NM_001061.7:c.1134+216_1134+217del MANE Select	NP_001052.3:n.1134+216_1134+217del
NM_001130966.4:c.1134+216_1134+217del	NP_001124438.2:n.1134+216_1134+217del
NM_001166253.3:c.1272+216_1272+217del	NP_001159725.2:n.1272+216_1272+217del
NM_001166254.3:c.933+216_933+217del	NP_001159726.1:n.933+216_933+217del
NM_001314028.3:c.1077+216_1077+217del	NP_001300957.1:n.1077+216_1077+217del
NM_001366537.2:c.951+216_951+217del	NP_001353466.1:n.951+216_951+217del
NM_030984.5:c.1134+216_1134+217del	NP_112246.3:n.1134+216_1134+217del
NM_001130966.5:c.1134+216_1134+217del	NP_001124438.2:n.1134+216_1134+217del
NM_001166253.4:c.1272+216_1272+217del	NP_001159725.2:n.1272+216_1272+217del
NM_001166254.4:c.933+216_933+217del	NP_001159726.1:n.933+216_933+217del
NM_001314028.4:c.1077+216_1077+217del	NP_001300957.1:n.1077+216_1077+217del
NM_001366537.3:c.951+216_951+217del	NP_001353466.1:n.951+216_951+217del
NM_030984.6:c.1134+216_1134+217del	NP_112246.3:n.1134+216_1134+217del