Canonical Allele Identifier: CA607646055

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114399427_114399429dup , CM000674.2:g.114399427_114399429dup	GRCh38
NC_000012.11:g.114837232_114837234dup , CM000674.1:g.114837232_114837234dup	GRCh37
NC_000012.10:g.113321615_113321617dup	NCBI36
NG_007373.1:g.14026_14028dup , LRG_670:g.14026_14028dup

Transcript Alleles

HGVS	Amino-acid Change
NM_181486.4:c.362+96_362+98dup MANE Select	NP_852259.1:n.362+96_362+98dup
ENST00000405440.7:c.362+96_362+98dup MANE Select	ENSP00000384152.3:n.362+96_362+98dup
NM_000192.3:c.362+96_362+98dup , LRG_670t1:c.362+96_362+98dup	NP_000183.2:n.362+96_362+98dup
NM_080717.2:c.212+96_212+98dup	NP_542448.1:n.212+96_212+98dup
NM_080717.3:c.212+96_212+98dup	NP_542448.1:n.212+96_212+98dup
NM_080717.4:c.212+96_212+98dup	NP_542448.1:n.212+96_212+98dup
NM_181486.2:c.362+96_362+98dup	NP_852259.1:n.362+96_362+98dup
ENST00000310346.8:c.362+96_362+98dup	ENSP00000309913.4:n.362+96_362+98dup
ENST00000349716.9:c.212+96_212+98dup	ENSP00000337723.5:n.212+96_212+98dup
ENST00000405440.6:c.362+96_362+98dup	ENSP00000384152.2:n.362+96_362+98dup
ENST00000526441.1:c.362+96_362+98dup	ENSP00000433292.1:n.362+96_362+98dup
ENST00000552726.1:n.413+96_413+98dup
XM_017019912.1:c.410+96_410+98dup	XP_016875401.1:n.410+96_410+98dup