Canonical Allele Identifier: CA10654762

Gene: TBX5

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114403798del , CM000674.2:g.114403798del	GRCh38
NC_000012.11:g.114841603del , CM000674.1:g.114841603del	GRCh37
NC_000012.10:g.113325986del	NCBI36
NG_007373.1:g.9649del , LRG_670:g.9649del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.105del MANE Select	ENSP00000384152.3:p.Ser36AlafsTer?
ENST00000310346.8:c.105del	ENSP00000309913.4:p.Ser36AlafsTer?
ENST00000349716.9:c.-3-1874del	ENSP00000337723.5:n.-3-1874del
ENST00000405440.6:c.105del	ENSP00000384152.2:p.Ser36AlafsTer?
ENST00000526441.1:c.105del	ENSP00000433292.1:p.Ser36AlafsTer?
ENST00000552726.1:n.156del
NM_000192.3:c.105del , LRG_670t1:c.105del	NP_000183.2:p.Ser36AlafsTer?
NM_080717.2:c.-3-1874del	NP_542448.1:n.-3-1874del
NM_181486.2:c.105del	NP_852259.1:p.Ser36AlafsTer?
XM_017019912.1:c.153del	XP_016875401.1:p.Ser52AlafsTer?
NM_080717.3:c.-3-1874del	NP_542448.1:n.-3-1874del
NM_181486.4:c.105del MANE Select	NP_852259.1:p.Ser36AlafsTer?
NM_080717.4:c.-3-1874del	NP_542448.1:n.-3-1874del