Canonical Allele Identifier: CA16619435

Gene: TBX5

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114355936del , CM000674.2:g.114355936del	GRCh38
NC_000012.11:g.114793741del , CM000674.1:g.114793741del	GRCh37
NC_000012.10:g.113278124del	NCBI36
NG_007373.1:g.57512del , LRG_670:g.57512del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.1158del MANE Select	ENSP00000384152.3:p.Ser387AlafsTer7
ENST00000310346.8:c.1158del	ENSP00000309913.4:p.Ser387AlafsTer7
ENST00000349716.9:c.1008del	ENSP00000337723.5:p.Ser337AlafsTer7
ENST00000405440.6:c.1158del	ENSP00000384152.2:p.Ser387AlafsTer7
NM_000192.3:c.1158del , LRG_670t1:c.1158del	NP_000183.2:p.Ser387AlafsTer7
NM_080717.2:c.1008del	NP_542448.1:p.Ser337AlafsTer7
NM_181486.2:c.1158del	NP_852259.1:p.Ser387AlafsTer7
XM_017019912.1:c.1206del	XP_016875401.1:p.Ser403AlafsTer7
NM_080717.3:c.1008del	NP_542448.1:p.Ser337AlafsTer7
NM_181486.4:c.1158del MANE Select	NP_852259.1:p.Ser387AlafsTer7
NM_080717.4:c.1008del	NP_542448.1:p.Ser337AlafsTer7