Canonical Allele Identifier: CA2064658813

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114403782_114403783delinsCG , CM000674.2:g.114403782_114403783delinsCG	GRCh38
NC_000012.11:g.114841587_114841588delinsCG , CM000674.1:g.114841587_114841588delinsCG	GRCh37
NC_000012.10:g.113325970_113325971delinsCG	NCBI36
NG_007373.1:g.9660_9661delinsCG , LRG_670:g.9660_9661delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.116_117delinsCG MANE Select	ENSP00000384152.3:p.Pro39=
ENST00000310346.8:c.116_117delinsCG	ENSP00000309913.4:p.Pro39=
ENST00000349716.9:c.-3-1863_-3-1862delinsCG	ENSP00000337723.5:n.-3-1863_-3-1862delinsCG
ENST00000405440.6:c.116_117delinsCG	ENSP00000384152.2:p.Pro39=
ENST00000526441.1:c.116_117delinsCG	ENSP00000433292.1:p.Pro39=
ENST00000552726.1:n.167_168delinsCG
NM_000192.3:c.116_117delinsCG , LRG_670t1:c.116_117delinsCG	NP_000183.2:p.Pro39=
NM_080717.2:c.-3-1863_-3-1862delinsCG	NP_542448.1:n.-3-1863_-3-1862delinsCG
NM_181486.2:c.116_117delinsCG	NP_852259.1:p.Pro39=
XM_017019912.1:c.164_165delinsCG	XP_016875401.1:p.Pro55=
NM_080717.3:c.-3-1863_-3-1862delinsCG	NP_542448.1:n.-3-1863_-3-1862delinsCG
NM_181486.4:c.116_117delinsCG MANE Select	NP_852259.1:p.Pro39=
NM_080717.4:c.-3-1863_-3-1862delinsCG	NP_542448.1:n.-3-1863_-3-1862delinsCG