Canonical Allele Identifier: CA2685188769

Gene: TBXAS1

Linked Data

• gnomAD v4: 7-139911163-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.139911168_139911169del , CM000669.2:g.139911168_139911169del	GRCh38
NC_000007.13:g.139610967_139610968del , CM000669.1:g.139610967_139610968del	GRCh37
NC_000007.12:g.139257436_139257437del	NCBI36
NG_008422.2:g.137787_137788del , LRG_579:g.137787_137788del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336425.10:c.237-57_237-56del	ENSP00000338087.7:n.237-57_237-56del
ENST00000411653.6:c.237-57_237-56del	ENSP00000411326.3:n.237-57_237-56del
ENST00000414041.2:c.*92-57_*92-56del	ENSP00000412710.3:n.*92-57_*92-56del
ENST00000422328.6:c.*26-57_*26-56del	ENSP00000415892.3:n.*26-57_*26-56del
ENST00000438104.6:c.237-57_237-56del	ENSP00000388612.3:n.237-57_237-56del
ENST00000448866.7:c.237-57_237-56del MANE Select	ENSP00000402536.3:n.237-57_237-56del
ENST00000455353.6:c.237-57_237-56del	ENSP00000391567.3:n.237-57_237-56del
ENST00000458722.6:c.237-57_237-56del	ENSP00000411274.3:n.237-57_237-56del
ENST00000650822.1:c.240-57_240-56del	ENSP00000498517.1:n.240-57_240-56del
ENST00000652056.1:c.240-57_240-56del	ENSP00000498271.1:n.240-57_240-56del
ENST00000263552.10:c.240-57_240-56del	ENSP00000263552.6:n.240-57_240-56del
ENST00000336425.9:c.237-57_237-56del	ENSP00000338087.5:n.237-57_237-56del
ENST00000411653.5:c.237-57_237-56del	ENSP00000411326.1:n.237-57_237-56del
ENST00000414041.1:c.*92-57_*92-56del	ENSP00000412710.1:n.*92-57_*92-56del
ENST00000414508.6:c.240-57_240-56del	ENSP00000392702.2:n.240-57_240-56del
ENST00000416849.6:c.240-57_240-56del	ENSP00000389414.2:n.240-57_240-56del
ENST00000422328.5:c.*26-57_*26-56del	ENSP00000415892.1:n.*26-57_*26-56del
ENST00000425687.5:c.36-57_36-56del	ENSP00000388736.1:n.36-57_36-56del
ENST00000438104.5:c.237-57_237-56del	ENSP00000388612.1:n.237-57_237-56del
ENST00000448866.5:c.237-57_237-56del	ENSP00000402536.1:n.237-57_237-56del
ENST00000455353.5:c.237-57_237-56del	ENSP00000391567.1:n.237-57_237-56del
ENST00000458722.5:c.237-57_237-56del	ENSP00000411274.1:n.237-57_237-56del
ENST00000462275.5:n.208-57_208-56del
ENST00000476637.5:n.357-25023_357-25022del
NM_001061.4:c.240-57_240-56del	NP_001052.2:n.240-57_240-56del
NM_001130966.2:c.240-57_240-56del , LRG_579t1:c.240-57_240-56del	NP_001124438.1:n.240-57_240-56del
NM_001166253.1:c.240-57_240-56del , LRG_579t4:c.240-57_240-56del	NP_001159725.1:n.240-57_240-56del
NM_001166254.1:c.36-57_36-56del , LRG_579t3:c.36-57_36-56del	NP_001159726.1:n.36-57_36-56del
NM_001314028.1:c.180-57_180-56del	NP_001300957.1:n.180-57_180-56del
NM_030984.3:c.240-57_240-56del , LRG_579t2:c.240-57_240-56del	NP_112246.2:n.240-57_240-56del
NR_029394.1:c.-4294966792-57_-4294966792-56del
XM_011516544.1:c.240-57_240-56del	XP_011514846.1:n.240-57_240-56del
NM_001061.5:c.237-57_237-56del	NP_001052.3:n.237-57_237-56del
NM_001130966.3:c.237-57_237-56del	NP_001124438.2:n.237-57_237-56del
NM_001166253.2:c.237-57_237-56del	NP_001159725.2:n.237-57_237-56del
NM_001166254.2:c.36-57_36-56del	NP_001159726.1:n.36-57_36-56del
NM_001314028.2:c.180-57_180-56del	NP_001300957.1:n.180-57_180-56del
NM_001366537.1:c.151-25023_151-25022del	NP_001353466.1:n.151-25023_151-25022del
NM_001366538.1:c.237-57_237-56del	NP_001353467.1:n.237-57_237-56del
NM_030984.4:c.237-57_237-56del	NP_112246.3:n.237-57_237-56del
XM_011516544.3:c.240-57_240-56del	XP_011514846.1:n.240-57_240-56del
XM_017012570.2:c.240-57_240-56del	XP_016868059.1:n.240-57_240-56del
XM_017012571.2:c.240-57_240-56del	XP_016868060.1:n.240-57_240-56del
XM_017012572.2:c.240-57_240-56del	XP_016868061.1:n.240-57_240-56del
XM_024446901.1:c.-19-57_-19-56del	XP_024302669.1:n.-19-57_-19-56del
NM_001061.7:c.237-57_237-56del MANE Select	NP_001052.3:n.237-57_237-56del
NM_001130966.4:c.237-57_237-56del	NP_001124438.2:n.237-57_237-56del
NM_001166253.3:c.237-57_237-56del	NP_001159725.2:n.237-57_237-56del
NM_001166254.3:c.36-57_36-56del	NP_001159726.1:n.36-57_36-56del
NM_001314028.3:c.180-57_180-56del	NP_001300957.1:n.180-57_180-56del
NM_001366537.2:c.151-25023_151-25022del	NP_001353466.1:n.151-25023_151-25022del
NM_001366538.2:c.237-57_237-56del	NP_001353467.1:n.237-57_237-56del
NM_030984.5:c.237-57_237-56del	NP_112246.3:n.237-57_237-56del
NM_001130966.5:c.237-57_237-56del	NP_001124438.2:n.237-57_237-56del
NM_001166253.4:c.237-57_237-56del	NP_001159725.2:n.237-57_237-56del
NM_001166254.4:c.36-57_36-56del	NP_001159726.1:n.36-57_36-56del
NM_001314028.4:c.180-57_180-56del	NP_001300957.1:n.180-57_180-56del
NM_001366537.3:c.151-25023_151-25022del	NP_001353466.1:n.151-25023_151-25022del
NM_030984.6:c.237-57_237-56del	NP_112246.3:n.237-57_237-56del