Canonical Allele Identifier: CA2763074067

Gene: PITX2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618672_110618673insACAG , CM000666.2:g.110618672_110618673insACAG	GRCh38
NC_000004.11:g.111539828_111539829insACAG , CM000666.1:g.111539828_111539829insACAG	GRCh37
NC_000004.10:g.111759277_111759278insACAG	NCBI36
NG_007120.1:g.23680_23681insCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.200_201insCTGT	ENSP00000484763.2:p.Ser68CysfsTer?
ENST00000614423.5:c.325_326insCTGT	ENSP00000481951.2:p.Arg109ProfsTer?
ENST00000616641.5:n.393_394insCTGT
ENST00000644488.2:n.397_398insCTGT
ENST00000394595.8:c.406_407insCTGT	ENSP00000378095.4:p.Arg136ProfsTer?
ENST00000644488.1:n.469_470insCTGT
ENST00000644743.1:c.427_428insCTGT MANE Select	ENSP00000495061.1:p.Arg143ProfsTer?
ENST00000645131.1:n.358_359insCTGT
ENST00000306732.7:c.427_428insCTGT	ENSP00000304169.3:p.Arg143ProfsTer?
ENST00000354925.6:c.406_407insCTGT	ENSP00000347004.2:p.Arg136ProfsTer?
ENST00000355080.9:c.268_269insCTGT	ENSP00000347192.5:p.Arg90ProfsTer?
ENST00000394595.7:c.200_201insCTGT	ENSP00000378095.3:p.Ser68CysfsTer?
ENST00000394598.6:c.406_407insCTGT	ENSP00000378097.2:p.Arg136ProfsTer?
ENST00000511837.5:c.406_407insCTGT	ENSP00000421454.1:p.Arg136ProfsTer?
ENST00000511990.1:c.268_269insCTGT	ENSP00000424142.1:p.Arg90ProfsTer?
ENST00000556049.1:n.733_734insCTGT
ENST00000607868.1:n.154_155insCTGT
ENST00000613094.4:c.406_407insCTGT	ENSP00000484763.1:p.Arg136ProfsTer?
ENST00000614423.4:c.406_407insCTGT	ENSP00000481951.1:p.Arg136ProfsTer?
ENST00000616641.4:c.268_269insCTGT	ENSP00000484909.1:p.Arg90ProfsTer?
NM_000325.5:c.427_428insCTGT	NP_000316.2:p.Arg143ProfsTer?
NM_001204397.1:c.406_407insCTGT	NP_001191326.1:p.Arg136ProfsTer?
NM_001204398.1:c.406_407insCTGT	NP_001191327.1:p.Arg136ProfsTer?
NM_001204399.1:c.268_269insCTGT	NP_001191328.1:p.Arg90ProfsTer?
NM_153426.2:c.406_407insCTGT	NP_700475.1:p.Arg136ProfsTer?
NM_153427.2:c.268_269insCTGT	NP_700476.1:p.Arg90ProfsTer?
XM_006714235.2:c.406_407insCTGT	XP_006714298.1:p.Arg136ProfsTer?
XM_011532027.1:c.268_269insCTGT	XP_011530329.1:p.Arg90ProfsTer?
XM_024454090.1:c.73_74insCTGT	XP_024309858.1:p.Arg25ProfsTer?
NM_000325.6:c.427_428insCTGT MANE Select	NP_000316.2:p.Arg143ProfsTer?
NM_001204397.2:c.406_407insCTGT	NP_001191326.1:p.Arg136ProfsTer?
NM_153426.3:c.406_407insCTGT	NP_700475.1:p.Arg136ProfsTer?
NM_153427.3:c.268_269insCTGT	NP_700476.1:p.Arg90ProfsTer?