Canonical Allele Identifier: CA1747341035

Gene: TBXAS1

Linked Data

• dbSNP Id: rs1810390655

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.139961981_139961998del , CM000669.2:g.139961981_139961998del	GRCh38
NC_000007.13:g.139661780_139661797del , CM000669.1:g.139661780_139661797del	GRCh37
NC_000007.12:g.139308249_139308266del	NCBI36
NG_008422.2:g.188600_188617del , LRG_579:g.188600_188617del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336425.10:c.882_899del	ENSP00000338087.7:p.Gln295_Val300del
ENST00000411653.6:c.882_899del	ENSP00000411326.3:p.Gln295_Val300del
ENST00000422328.6:c.*671_*688del	ENSP00000415892.3:n.*671_*688del
ENST00000448866.7:c.882_899del MANE Select	ENSP00000402536.3:p.Gln295_Val300del
ENST00000458722.6:c.1020_1037del	ENSP00000411274.3:p.Gln341_Val346del
ENST00000650822.1:c.885_902del	ENSP00000498517.1:p.Gln296_Val301del
ENST00000652056.1:c.885_902del	ENSP00000498271.1:p.Gln296_Val301del
ENST00000263552.10:c.885_902del	ENSP00000263552.6:p.Gln296_Val301del
ENST00000336425.9:c.882_899del	ENSP00000338087.5:p.Gln295_Val300del
ENST00000411653.5:c.882_899del	ENSP00000411326.1:p.Gln295_Val300del
ENST00000414508.6:c.885_902del	ENSP00000392702.2:p.Gln296_Val301del
ENST00000416849.6:c.1023_1040del	ENSP00000389414.2:p.Gln342_Val347del
ENST00000422328.5:c.*671_*688del	ENSP00000415892.1:n.*671_*688del
ENST00000425687.5:c.681_698del	ENSP00000388736.1:p.Gln228_Val233del
ENST00000448866.5:c.882_899del	ENSP00000402536.1:p.Gln295_Val300del
ENST00000458722.5:c.1020_1037del	ENSP00000411274.1:p.Gln341_Val346del
ENST00000462275.5:n.853_870del
ENST00000469630.1:n.365_382del
ENST00000494876.1:n.247_264del
NM_001061.4:c.885_902del	NP_001052.2:p.Gln296_Val301del
NM_001130966.2:c.885_902del , LRG_579t1:c.885_902del	NP_001124438.1:p.Gln296_Val301del
NM_001166253.1:c.1023_1040del , LRG_579t4:c.1023_1040del	NP_001159725.1:p.Gln342_Val347del
NM_001166254.1:c.681_698del , LRG_579t3:c.681_698del	NP_001159726.1:p.Gln228_Val233del
NM_001314028.1:c.825_842del	NP_001300957.1:p.Gln276_Val281del
NM_030984.3:c.885_902del , LRG_579t2:c.885_902del	NP_112246.2:p.Gln296_Val301del
NR_029394.1:c.-4294966147_-4294966130del
XM_011516544.1:c.885_902del	XP_011514846.1:p.Gln296_Val301del
NM_001061.5:c.882_899del	NP_001052.3:p.Gln295_Val300del
NM_001130966.3:c.882_899del	NP_001124438.2:p.Gln295_Val300del
NM_001166253.2:c.1020_1037del	NP_001159725.2:p.Gln341_Val346del
NM_001166254.2:c.681_698del	NP_001159726.1:p.Gln228_Val233del
NM_001314028.2:c.825_842del	NP_001300957.1:p.Gln276_Val281del
NM_001366537.1:c.699_716del	NP_001353466.1:p.Gln234_Val239del
NM_030984.4:c.882_899del	NP_112246.3:p.Gln295_Val300del
XM_011516544.3:c.885_902del	XP_011514846.1:p.Gln296_Val301del
XM_017012570.2:c.885_902del	XP_016868059.1:p.Gln296_Val301del
XM_017012571.2:c.885_902del	XP_016868060.1:p.Gln296_Val301del
XM_017012572.2:c.885_902del	XP_016868061.1:p.Gln296_Val301del
XM_024446901.1:c.627_644del	XP_024302669.1:p.Gln210_Val215del
NM_001061.7:c.882_899del MANE Select	NP_001052.3:p.Gln295_Val300del
NM_001130966.4:c.882_899del	NP_001124438.2:p.Gln295_Val300del
NM_001166253.3:c.1020_1037del	NP_001159725.2:p.Gln341_Val346del
NM_001166254.3:c.681_698del	NP_001159726.1:p.Gln228_Val233del
NM_001314028.3:c.825_842del	NP_001300957.1:p.Gln276_Val281del
NM_001366537.2:c.699_716del	NP_001353466.1:p.Gln234_Val239del
NM_030984.5:c.882_899del	NP_112246.3:p.Gln295_Val300del
NM_001130966.5:c.882_899del	NP_001124438.2:p.Gln295_Val300del
NM_001166253.4:c.1020_1037del	NP_001159725.2:p.Gln341_Val346del
NM_001166254.4:c.681_698del	NP_001159726.1:p.Gln228_Val233del
NM_001314028.4:c.825_842del	NP_001300957.1:p.Gln276_Val281del
NM_001366537.3:c.699_716del	NP_001353466.1:p.Gln234_Val239del
NM_030984.6:c.882_899del	NP_112246.3:p.Gln295_Val300del