Canonical Allele Identifier: CA913189544

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114403818_114403832del , CM000674.2:g.114403818_114403832del	GRCh38
NC_000012.11:g.114841623_114841637del , CM000674.1:g.114841623_114841637del	GRCh37
NC_000012.10:g.113326006_113326020del	NCBI36
NG_007373.1:g.9614_9628del , LRG_670:g.9614_9628del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.70_84del MANE Select	ENSP00000384152.3:p.Cys24_Pro28del
ENST00000310346.8:c.70_84del	ENSP00000309913.4:p.Cys24_Pro28del
ENST00000349716.9:c.-3-1909_-3-1895del	ENSP00000337723.5:n.-3-1909_-3-1895del
ENST00000405440.6:c.70_84del	ENSP00000384152.2:p.Cys24_Pro28del
ENST00000526441.1:c.70_84del	ENSP00000433292.1:p.Cys24_Pro28del
ENST00000552726.1:n.121_135del
NM_000192.3:c.70_84del , LRG_670t1:c.70_84del	NP_000183.2:p.Cys24_Pro28del
NM_080717.2:c.-3-1909_-3-1895del	NP_542448.1:n.-3-1909_-3-1895del
NM_181486.2:c.70_84del	NP_852259.1:p.Cys24_Pro28del
XM_017019912.1:c.118_132del	XP_016875401.1:p.Cys40_Pro44del
NM_080717.3:c.-3-1909_-3-1895del	NP_542448.1:n.-3-1909_-3-1895del
NM_181486.4:c.70_84del MANE Select	NP_852259.1:p.Cys24_Pro28del
NM_080717.4:c.-3-1909_-3-1895del	NP_542448.1:n.-3-1909_-3-1895del