Canonical Allele Identifier: CA2517962823
Gene: TBX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114398374_114398375insGGA , CM000674.2:g.114398374_114398375insGGA GRCh38
NC_000012.11:g.114836179_114836180insGGA , CM000674.1:g.114836179_114836180insGGA GRCh37
NC_000012.10:g.113320562_113320563insGGA NCBI36
NG_007373.1:g.15068_15069insTCC , LRG_670:g.15068_15069insTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000405440.7:c.510+198_510+199insTCC MANE Select ENSP00000384152.3:n.510+198_510+199insTCC
ENST00000310346.8:c.510+198_510+199insTCC ENSP00000309913.4:n.510+198_510+199insTCC
ENST00000349716.9:c.360+198_360+199insTCC ENSP00000337723.5:n.360+198_360+199insTCC
ENST00000405440.6:c.510+198_510+199insTCC ENSP00000384152.2:n.510+198_510+199insTCC
ENST00000526441.1:c.510+198_510+199insTCC ENSP00000433292.1:n.510+198_510+199insTCC
ENST00000552726.1:n.561+198_561+199insTCC
NM_000192.3:c.510+198_510+199insTCC , LRG_670t1:c.510+198_510+199insTCC NP_000183.2:n.510+198_510+199insTCC
NM_080717.2:c.360+198_360+199insTCC NP_542448.1:n.360+198_360+199insTCC
NM_181486.2:c.510+198_510+199insTCC NP_852259.1:n.510+198_510+199insTCC
XM_017019912.1:c.558+198_558+199insTCC XP_016875401.1:n.558+198_558+199insTCC
NM_080717.3:c.360+198_360+199insTCC NP_542448.1:n.360+198_360+199insTCC
NM_181486.4:c.510+198_510+199insTCC MANE Select NP_852259.1:n.510+198_510+199insTCC
NM_080717.4:c.360+198_360+199insTCC NP_542448.1:n.360+198_360+199insTCC