Canonical Allele Identifier: CA2581463469

Gene: TBX5

Linked Data

• ClinVar Variation Id: 2735980
• ClinVar RCV Id: RCV003531564

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114403802dup , CM000674.2:g.114403802dup	GRCh38
NC_000012.11:g.114841607dup , CM000674.1:g.114841607dup	GRCh37
NC_000012.10:g.113325990dup	NCBI36
NG_007373.1:g.9644dup , LRG_670:g.9644dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.100dup MANE Select	ENSP00000384152.3:p.Ala34GlyfsTer27
ENST00000310346.8:c.100dup	ENSP00000309913.4:p.Ala34GlyfsTer27
ENST00000349716.9:c.-3-1879dup	ENSP00000337723.5:n.-3-1879dup
ENST00000405440.6:c.100dup	ENSP00000384152.2:p.Ala34GlyfsTer27
ENST00000526441.1:c.100dup	ENSP00000433292.1:p.Ala34GlyfsTer27
ENST00000552726.1:n.151dup
NM_000192.3:c.100dup , LRG_670t1:c.100dup	NP_000183.2:p.Ala34GlyfsTer27
NM_080717.2:c.-3-1879dup	NP_542448.1:n.-3-1879dup
NM_181486.2:c.100dup	NP_852259.1:p.Ala34GlyfsTer27
XM_017019912.1:c.148dup	XP_016875401.1:p.Ala50GlyfsTer27
NM_080717.3:c.-3-1879dup	NP_542448.1:n.-3-1879dup
NM_181486.4:c.100dup MANE Select	NP_852259.1:p.Ala34GlyfsTer27
NM_080717.4:c.-3-1879dup	NP_542448.1:n.-3-1879dup