Canonical Allele Identifier: CA2842093571

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114403749dup , CM000674.2:g.114403749dup	GRCh38
NC_000012.11:g.114841554dup , CM000674.1:g.114841554dup	GRCh37
NC_000012.10:g.113325937dup	NCBI36
NG_007373.1:g.9695dup , LRG_670:g.9695dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.147+4dup MANE Select	ENSP00000384152.3:n.147+4dup
ENST00000310346.8:c.147+4dup	ENSP00000309913.4:n.147+4dup
ENST00000349716.9:c.-3-1828dup	ENSP00000337723.5:n.-3-1828dup
ENST00000405440.6:c.147+4dup	ENSP00000384152.2:n.147+4dup
ENST00000526441.1:c.147+4dup	ENSP00000433292.1:n.147+4dup
ENST00000552726.1:n.198+4dup
NM_000192.3:c.147+4dup , LRG_670t1:c.147+4dup	NP_000183.2:n.147+4dup
NM_080717.2:c.-3-1828dup	NP_542448.1:n.-3-1828dup
NM_181486.2:c.147+4dup	NP_852259.1:n.147+4dup
XM_017019912.1:c.195+4dup	XP_016875401.1:n.195+4dup
NM_080717.3:c.-3-1828dup	NP_542448.1:n.-3-1828dup
NM_181486.4:c.147+4dup MANE Select	NP_852259.1:n.147+4dup
NM_080717.4:c.-3-1828dup	NP_542448.1:n.-3-1828dup