Canonical Allele Identifier: CA683862355

Gene: TBX5

Linked Data

• dbSNP Id: rs1480125070
• MyVariant Identifiers: chr12:g.114836201_114836204del (hg19) ; chr12:g.114398396_114398399del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398402_114398405del , CM000674.2:g.114398402_114398405del	GRCh38
NC_000012.11:g.114836207_114836210del , CM000674.1:g.114836207_114836210del	GRCh37
NC_000012.10:g.113320590_113320593del	NCBI36
NG_007373.1:g.15044_15047del , LRG_670:g.15044_15047del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.510+174_510+177del MANE Select	ENSP00000384152.3:n.510+174_510+177del
ENST00000310346.8:c.510+174_510+177del	ENSP00000309913.4:n.510+174_510+177del
ENST00000349716.9:c.360+174_360+177del	ENSP00000337723.5:n.360+174_360+177del
ENST00000405440.6:c.510+174_510+177del	ENSP00000384152.2:n.510+174_510+177del
ENST00000526441.1:c.510+174_510+177del	ENSP00000433292.1:n.510+174_510+177del
ENST00000552726.1:n.561+174_561+177del
NM_000192.3:c.510+174_510+177del , LRG_670t1:c.510+174_510+177del	NP_000183.2:n.510+174_510+177del
NM_080717.2:c.360+174_360+177del	NP_542448.1:n.360+174_360+177del
NM_181486.2:c.510+174_510+177del	NP_852259.1:n.510+174_510+177del
XM_017019912.1:c.558+174_558+177del	XP_016875401.1:n.558+174_558+177del
NM_080717.3:c.360+174_360+177del	NP_542448.1:n.360+174_360+177del
NM_181486.4:c.510+174_510+177del MANE Select	NP_852259.1:n.510+174_510+177del
NM_080717.4:c.360+174_360+177del	NP_542448.1:n.360+174_360+177del