Canonical Allele Identifier: CA2064655210

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114401895_114401905delinsAGAAACACTTT , CM000674.2:g.114401895_114401905delinsAGAAACACTTT	GRCh38
NC_000012.11:g.114839700_114839710delinsAGAAACACTTT , CM000674.1:g.114839700_114839710delinsAGAAACACTTT	GRCh37
NC_000012.10:g.113324083_113324093delinsAGAAACACTTT	NCBI36
NG_007373.1:g.11538_11548delinsAAAGTGTTTCT , LRG_670:g.11538_11548delinsAAAGTGTTTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.163_173delinsAAAGTGTTTCT MANE Select	ENSP00000384152.3:p.Lys55=
ENST00000310346.8:c.163_173delinsAAAGTGTTTCT	ENSP00000309913.4:p.Lys55=
ENST00000349716.9:c.13_23delinsAAAGTGTTTCT	ENSP00000337723.5:p.Lys5=
ENST00000405440.6:c.163_173delinsAAAGTGTTTCT	ENSP00000384152.2:p.Lys55=
ENST00000526441.1:c.163_173delinsAAAGTGTTTCT	ENSP00000433292.1:p.Lys55=
ENST00000552726.1:n.214_224delinsAAAGTGTTTCT
NM_000192.3:c.163_173delinsAAAGTGTTTCT , LRG_670t1:c.163_173delinsAAAGTGTTTCT	NP_000183.2:p.Lys55=
NM_080717.2:c.13_23delinsAAAGTGTTTCT	NP_542448.1:p.Lys5=
NM_181486.2:c.163_173delinsAAAGTGTTTCT	NP_852259.1:p.Lys55=
XM_017019912.1:c.211_221delinsAAAGTGTTTCT	XP_016875401.1:p.Lys71=
NM_080717.3:c.13_23delinsAAAGTGTTTCT	NP_542448.1:p.Lys5=
NM_181486.4:c.163_173delinsAAAGTGTTTCT MANE Select	NP_852259.1:p.Lys55=
NM_080717.4:c.13_23delinsAAAGTGTTTCT	NP_542448.1:p.Lys5=