Canonical Allele Identifier: CA4511882

Gene: TBXAS1

Linked Data

• ClinVar Variation Id: 2051451
• ClinVar RCV Id: RCV002927261
• dbSNP Id: rs748473096
• ExAC: 7:139662001 TGA / T
• gnomAD v2: 7-139662001-TGA-T
• gnomAD v3: 7-139962202-TGA-T
• gnomAD v4: 7-139962202-TGA-T
• MyVariant Identifiers: chr7:g.139662002_139662003del (hg19) ; chr7:g.139962203_139962204del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.139962208_139962209del , CM000669.2:g.139962208_139962209del	GRCh38
NC_000007.13:g.139662007_139662008del , CM000669.1:g.139662007_139662008del	GRCh37
NC_000007.12:g.139308476_139308477del	NCBI36
NG_008422.2:g.188827_188828del , LRG_579:g.188827_188828del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336425.10:c.1109_1110del	ENSP00000338087.7:p.Glu370GlyfsTer5
ENST00000411653.6:c.1109_1110del	ENSP00000411326.3:p.Glu370GlyfsTer5
ENST00000422328.6:c.*898_*899del	ENSP00000415892.3:n.*898_*899del
ENST00000448866.7:c.1109_1110del MANE Select	ENSP00000402536.3:p.Glu370GlyfsTer5
ENST00000458722.6:c.1247_1248del	ENSP00000411274.3:p.Glu416GlyfsTer5
ENST00000650822.1:c.1112_1113del	ENSP00000498517.1:p.Glu371GlyfsTer5
ENST00000652056.1:c.1112_1113del	ENSP00000498271.1:p.Glu371GlyfsTer5
ENST00000263552.10:c.1112_1113del	ENSP00000263552.6:p.Glu371GlyfsTer5
ENST00000336425.9:c.1109_1110del	ENSP00000338087.5:p.Glu370GlyfsTer5
ENST00000411653.5:c.1109_1110del	ENSP00000411326.1:p.Glu370GlyfsTer5
ENST00000414508.6:c.1112_1113del	ENSP00000392702.2:p.Glu371GlyfsTer5
ENST00000416849.6:c.1250_1251del	ENSP00000389414.2:p.Glu417GlyfsTer5
ENST00000422328.5:c.*898_*899del	ENSP00000415892.1:n.*898_*899del
ENST00000425687.5:c.908_909del	ENSP00000388736.1:p.Glu303GlyfsTer5
ENST00000448866.5:c.1109_1110del	ENSP00000402536.1:p.Glu370GlyfsTer5
ENST00000458722.5:c.1247_1248del	ENSP00000411274.1:p.Glu416GlyfsTer5
ENST00000462275.5:n.1080_1081del
ENST00000469630.1:n.592_593del
ENST00000494876.1:n.474_475del
NM_001061.4:c.1112_1113del	NP_001052.2:p.Glu371GlyfsTer5
NM_001130966.2:c.1112_1113del , LRG_579t1:c.1112_1113del	NP_001124438.1:p.Glu371GlyfsTer5
NM_001166253.1:c.1250_1251del , LRG_579t4:c.1250_1251del	NP_001159725.1:p.Glu417GlyfsTer5
NM_001166254.1:c.908_909del , LRG_579t3:c.908_909del	NP_001159726.1:p.Glu303GlyfsTer5
NM_001314028.1:c.1052_1053del	NP_001300957.1:p.Glu351GlyfsTer5
NM_030984.3:c.1112_1113del , LRG_579t2:c.1112_1113del	NP_112246.2:p.Glu371GlyfsTer5
NR_029394.1:c.-4294965920_-4294965919del
XM_011516544.1:c.1112_1113del	XP_011514846.1:p.Glu371GlyfsTer5
NM_001061.5:c.1109_1110del	NP_001052.3:p.Glu370GlyfsTer5
NM_001130966.3:c.1109_1110del	NP_001124438.2:p.Glu370GlyfsTer5
NM_001166253.2:c.1247_1248del	NP_001159725.2:p.Glu416GlyfsTer5
NM_001166254.2:c.908_909del	NP_001159726.1:p.Glu303GlyfsTer5
NM_001314028.2:c.1052_1053del	NP_001300957.1:p.Glu351GlyfsTer5
NM_001366537.1:c.926_927del	NP_001353466.1:p.Glu309GlyfsTer5
NM_030984.4:c.1109_1110del	NP_112246.3:p.Glu370GlyfsTer5
XM_011516544.3:c.1112_1113del	XP_011514846.1:p.Glu371GlyfsTer5
XM_017012570.2:c.1112_1113del	XP_016868059.1:p.Glu371GlyfsTer5
XM_017012571.2:c.1112_1113del	XP_016868060.1:p.Glu371GlyfsTer5
XM_017012572.2:c.1112_1113del	XP_016868061.1:p.Glu371GlyfsTer5
XM_024446901.1:c.854_855del	XP_024302669.1:p.Glu285GlyfsTer5
NM_001061.7:c.1109_1110del MANE Select	NP_001052.3:p.Glu370GlyfsTer5
NM_001130966.4:c.1109_1110del	NP_001124438.2:p.Glu370GlyfsTer5
NM_001166253.3:c.1247_1248del	NP_001159725.2:p.Glu416GlyfsTer5
NM_001166254.3:c.908_909del	NP_001159726.1:p.Glu303GlyfsTer5
NM_001314028.3:c.1052_1053del	NP_001300957.1:p.Glu351GlyfsTer5
NM_001366537.2:c.926_927del	NP_001353466.1:p.Glu309GlyfsTer5
NM_030984.5:c.1109_1110del	NP_112246.3:p.Glu370GlyfsTer5
NM_001130966.5:c.1109_1110del	NP_001124438.2:p.Glu370GlyfsTer5
NM_001166253.4:c.1247_1248del	NP_001159725.2:p.Glu416GlyfsTer5
NM_001166254.4:c.908_909del	NP_001159726.1:p.Glu303GlyfsTer5
NM_001314028.4:c.1052_1053del	NP_001300957.1:p.Glu351GlyfsTer5
NM_001366537.3:c.926_927del	NP_001353466.1:p.Glu309GlyfsTer5
NM_030984.6:c.1109_1110del	NP_112246.3:p.Glu370GlyfsTer5