Canonical Allele Identifier: CA2797549210
Gene: TBX5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114399499_114399514del , CM000674.2:g.114399499_114399514del GRCh38
NC_000012.11:g.114837304_114837319del , CM000674.1:g.114837304_114837319del GRCh37
NC_000012.10:g.113321687_113321702del NCBI36
NG_007373.1:g.13929_13944del , LRG_670:g.13929_13944del

Transcript Alleles

HGVS Amino-acid change
ENST00000405440.7:c.361_362+14del
ENST00000310346.8:c.361_362+14del
ENST00000349716.9:c.211_212+14del
ENST00000405440.6:c.361_362+14del
ENST00000526441.1:c.361_362+14del
ENST00000552726.1:n.412_413+14del
NM_000192.3:c.361_362+14del , LRG_670t1:c.361_362+14del
NM_080717.2:c.211_212+14del
NM_181486.2:c.361_362+14del
XM_017019912.1:c.409_410+14del
NM_080717.3:c.211_212+14del
NM_181486.4:c.361_362+14del
NM_080717.4:c.211_212+14del
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