Canonical Allele Identifier: CA2621125078

Gene: TBX5

Linked Data

• gnomAD v4: 12-114398511-TGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398512_114398514del , CM000674.2:g.114398512_114398514del	GRCh38
NC_000012.11:g.114836317_114836319del , CM000674.1:g.114836317_114836319del	GRCh37
NC_000012.10:g.113320700_113320702del	NCBI36
NG_007373.1:g.14929_14931del , LRG_670:g.14929_14931del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.510+59_510+61del MANE Select	ENSP00000384152.3:n.510+59_510+61del
ENST00000310346.8:c.510+59_510+61del	ENSP00000309913.4:n.510+59_510+61del
ENST00000349716.9:c.360+59_360+61del	ENSP00000337723.5:n.360+59_360+61del
ENST00000405440.6:c.510+59_510+61del	ENSP00000384152.2:n.510+59_510+61del
ENST00000526441.1:c.510+59_510+61del	ENSP00000433292.1:n.510+59_510+61del
ENST00000552726.1:n.561+59_561+61del
NM_000192.3:c.510+59_510+61del , LRG_670t1:c.510+59_510+61del	NP_000183.2:n.510+59_510+61del
NM_080717.2:c.360+59_360+61del	NP_542448.1:n.360+59_360+61del
NM_181486.2:c.510+59_510+61del	NP_852259.1:n.510+59_510+61del
XM_017019912.1:c.558+59_558+61del	XP_016875401.1:n.558+59_558+61del
NM_080717.3:c.360+59_360+61del	NP_542448.1:n.360+59_360+61del
NM_181486.4:c.510+59_510+61del MANE Select	NP_852259.1:n.510+59_510+61del
NM_080717.4:c.360+59_360+61del	NP_542448.1:n.360+59_360+61del