Canonical Allele Identifier: CA578247498

Gene: TBXAS1

Linked Data

• gnomAD v2: 7-139702499-A-AT
• MyVariant Identifiers: chr7:g.139702499_139702500insT (hg19) ; chr7:g.140002700_140002701insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140002700_140002701insT , CM000669.2:g.140002700_140002701insT	GRCh38
NC_000007.13:g.139702499_139702500insT , CM000669.1:g.139702499_139702500insT	GRCh37
NC_000007.12:g.139348968_139348969insT	NCBI36
NG_008422.2:g.229319_229320insT , LRG_579:g.229319_229320insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000336425.10:c.1135-4391_1135-4390insT	ENSP00000338087.7:n.1135-4391_1135-4390insT
ENST00000411653.6:c.1135-4391_1135-4390insT	ENSP00000411326.3:n.1135-4391_1135-4390insT
ENST00000422328.6:c.*924-4391_*924-4390insT	ENSP00000415892.3:n.*924-4391_*924-4390insT
ENST00000448866.7:c.1135-4391_1135-4390insT MANE Select	ENSP00000402536.3:n.1135-4391_1135-4390insT
ENST00000458722.6:c.1273-4391_1273-4390insT	ENSP00000411274.3:n.1273-4391_1273-4390insT
ENST00000650822.1:c.1138-4391_1138-4390insT	ENSP00000498517.1:n.1138-4391_1138-4390insT
ENST00000652056.1:c.1138-4391_1138-4390insT	ENSP00000498271.1:n.1138-4391_1138-4390insT
ENST00000263552.10:c.1138-4391_1138-4390insT	ENSP00000263552.6:n.1138-4391_1138-4390insT
ENST00000336425.9:c.1135-4391_1135-4390insT	ENSP00000338087.5:n.1135-4391_1135-4390insT
ENST00000411653.5:c.1135-4391_1135-4390insT	ENSP00000411326.1:n.1135-4391_1135-4390insT
ENST00000414508.6:c.1138-4391_1138-4390insT	ENSP00000392702.2:n.1138-4391_1138-4390insT
ENST00000416849.6:c.1276-4391_1276-4390insT	ENSP00000389414.2:n.1276-4391_1276-4390insT
ENST00000422328.5:c.*924-4391_*924-4390insT	ENSP00000415892.1:n.*924-4391_*924-4390insT
ENST00000425687.5:c.934-4391_934-4390insT	ENSP00000388736.1:n.934-4391_934-4390insT
ENST00000448866.5:c.1135-4391_1135-4390insT	ENSP00000402536.1:n.1135-4391_1135-4390insT
ENST00000458722.5:c.1273-4391_1273-4390insT	ENSP00000411274.1:n.1273-4391_1273-4390insT
ENST00000462275.5:n.1106-4391_1106-4390insT
NM_001061.4:c.1138-4391_1138-4390insT	NP_001052.2:n.1138-4391_1138-4390insT
NM_001130966.2:c.1138-4391_1138-4390insT , LRG_579t1:c.1138-4391_1138-4390insT	NP_001124438.1:n.1138-4391_1138-4390insT
NM_001166253.1:c.1276-4391_1276-4390insT , LRG_579t4:c.1276-4391_1276-4390insT	NP_001159725.1:n.1276-4391_1276-4390insT
NM_001166254.1:c.934-4391_934-4390insT , LRG_579t3:c.934-4391_934-4390insT	NP_001159726.1:n.934-4391_934-4390insT
NM_001314028.1:c.1078-4391_1078-4390insT	NP_001300957.1:n.1078-4391_1078-4390insT
NM_030984.3:c.1138-4391_1138-4390insT , LRG_579t2:c.1138-4391_1138-4390insT	NP_112246.2:n.1138-4391_1138-4390insT
NR_029394.1:c.-4294965894-4391_-4294965894-4390insT
XM_011516544.1:c.1138-4391_1138-4390insT	XP_011514846.1:n.1138-4391_1138-4390insT
NM_001061.5:c.1135-4391_1135-4390insT	NP_001052.3:n.1135-4391_1135-4390insT
NM_001130966.3:c.1135-4391_1135-4390insT	NP_001124438.2:n.1135-4391_1135-4390insT
NM_001166253.2:c.1273-4391_1273-4390insT	NP_001159725.2:n.1273-4391_1273-4390insT
NM_001166254.2:c.934-4391_934-4390insT	NP_001159726.1:n.934-4391_934-4390insT
NM_001314028.2:c.1078-4391_1078-4390insT	NP_001300957.1:n.1078-4391_1078-4390insT
NM_001366537.1:c.952-4391_952-4390insT	NP_001353466.1:n.952-4391_952-4390insT
NM_030984.4:c.1135-4391_1135-4390insT	NP_112246.3:n.1135-4391_1135-4390insT
XM_011516544.3:c.1138-4391_1138-4390insT	XP_011514846.1:n.1138-4391_1138-4390insT
XM_024446901.1:c.880-4391_880-4390insT	XP_024302669.1:n.880-4391_880-4390insT
NM_001061.7:c.1135-4391_1135-4390insT MANE Select	NP_001052.3:n.1135-4391_1135-4390insT
NM_001130966.4:c.1135-4391_1135-4390insT	NP_001124438.2:n.1135-4391_1135-4390insT
NM_001166253.3:c.1273-4391_1273-4390insT	NP_001159725.2:n.1273-4391_1273-4390insT
NM_001166254.3:c.934-4391_934-4390insT	NP_001159726.1:n.934-4391_934-4390insT
NM_001314028.3:c.1078-4391_1078-4390insT	NP_001300957.1:n.1078-4391_1078-4390insT
NM_001366537.2:c.952-4391_952-4390insT	NP_001353466.1:n.952-4391_952-4390insT
NM_030984.5:c.1135-4391_1135-4390insT	NP_112246.3:n.1135-4391_1135-4390insT
NM_001130966.5:c.1135-4391_1135-4390insT	NP_001124438.2:n.1135-4391_1135-4390insT
NM_001166253.4:c.1273-4391_1273-4390insT	NP_001159725.2:n.1273-4391_1273-4390insT
NM_001166254.4:c.934-4391_934-4390insT	NP_001159726.1:n.934-4391_934-4390insT
NM_001314028.4:c.1078-4391_1078-4390insT	NP_001300957.1:n.1078-4391_1078-4390insT
NM_001366537.3:c.952-4391_952-4390insT	NP_001353466.1:n.952-4391_952-4390insT
NM_030984.6:c.1135-4391_1135-4390insT	NP_112246.3:n.1135-4391_1135-4390insT