Canonical Allele Identifier: CA2064648842

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398315_114398326delinsAGAAAGCAAAGG , CM000674.2:g.114398315_114398326delinsAGAAAGCAAAGG	GRCh38
NC_000012.11:g.114836120_114836131delinsAGAAAGCAAAGG , CM000674.1:g.114836120_114836131delinsAGAAAGCAAAGG	GRCh37
NC_000012.10:g.113320503_113320514delinsAGAAAGCAAAGG	NCBI36
NG_007373.1:g.15117_15128delinsCCTTTGCTTTCT , LRG_670:g.15117_15128delinsCCTTTGCTTTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.510+247_510+258delinsCCTTTGCTTTCT MANE Select	ENSP00000384152.3:n.510+247_510+258delinsCCTTTGCTTTCT
ENST00000310346.8:c.510+247_510+258delinsCCTTTGCTTTCT	ENSP00000309913.4:n.510+247_510+258delinsCCTTTGCTTTCT
ENST00000349716.9:c.360+247_360+258delinsCCTTTGCTTTCT	ENSP00000337723.5:n.360+247_360+258delinsCCTTTGCTTTCT
ENST00000405440.6:c.510+247_510+258delinsCCTTTGCTTTCT	ENSP00000384152.2:n.510+247_510+258delinsCCTTTGCTTTCT
ENST00000526441.1:c.510+247_510+258delinsCCTTTGCTTTCT	ENSP00000433292.1:n.510+247_510+258delinsCCTTTGCTTTCT
ENST00000552726.1:n.561+247_561+258delinsCCTTTGCTTTCT
NM_000192.3:c.510+247_510+258delinsCCTTTGCTTTCT , LRG_670t1:c.510+247_510+258delinsCCTTTGCTTTCT	NP_000183.2:n.510+247_510+258delinsCCTTTGCTTTCT
NM_080717.2:c.360+247_360+258delinsCCTTTGCTTTCT	NP_542448.1:n.360+247_360+258delinsCCTTTGCTTTCT
NM_181486.2:c.510+247_510+258delinsCCTTTGCTTTCT	NP_852259.1:n.510+247_510+258delinsCCTTTGCTTTCT
XM_017019912.1:c.558+247_558+258delinsCCTTTGCTTTCT	XP_016875401.1:n.558+247_558+258delinsCCTTTGCTTTCT
NM_080717.3:c.360+247_360+258delinsCCTTTGCTTTCT	NP_542448.1:n.360+247_360+258delinsCCTTTGCTTTCT
NM_181486.4:c.510+247_510+258delinsCCTTTGCTTTCT MANE Select	NP_852259.1:n.510+247_510+258delinsCCTTTGCTTTCT
NM_080717.4:c.360+247_360+258delinsCCTTTGCTTTCT	NP_542448.1:n.360+247_360+258delinsCCTTTGCTTTCT