Canonical Allele Identifier: CA2740563901

Gene: PITX2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110621221_110621253del , CM000666.2:g.110621221_110621253del	GRCh38
NC_000004.11:g.111542377_111542409del , CM000666.1:g.111542377_111542409del	GRCh37
NC_000004.10:g.111761826_111761858del	NCBI36
NG_007120.1:g.21100_21132del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.185-2565_185-2533del	ENSP00000484763.2:n.185-2565_185-2533del
ENST00000614423.5:c.220_252del	ENSP00000481951.2:p.Glu74_Asp84del
ENST00000616641.5:n.288_320del
ENST00000644488.2:n.292_324del
ENST00000394595.8:c.301_333del	ENSP00000378095.4:p.Glu101_Asp111del
ENST00000644488.1:n.364_396del
ENST00000644743.1:c.322_354del MANE Select	ENSP00000495061.1:p.Glu108_Asp118del
ENST00000645131.1:n.253_285del
ENST00000306732.7:c.322_354del	ENSP00000304169.3:p.Glu108_Asp118del
ENST00000354925.6:c.301_333del	ENSP00000347004.2:p.Glu101_Asp111del
ENST00000355080.9:c.163_195del	ENSP00000347192.5:p.Glu55_Asp65del
ENST00000394595.7:c.185-2565_185-2533del	ENSP00000378095.3:n.185-2565_185-2533del
ENST00000394598.6:c.301_333del	ENSP00000378097.2:p.Glu101_Asp111del
ENST00000511837.5:c.301_333del	ENSP00000421454.1:p.Glu101_Asp111del
ENST00000511990.1:c.163_195del	ENSP00000424142.1:p.Glu55_Asp65del
ENST00000557119.2:c.322_354del	ENSP00000475617.1:p.Glu108_Asp118del
ENST00000613094.4:c.301_333del	ENSP00000484763.1:p.Glu101_Asp111del
ENST00000614423.4:c.301_333del	ENSP00000481951.1:p.Glu101_Asp111del
ENST00000616641.4:c.163_195del	ENSP00000484909.1:p.Glu55_Asp65del
NM_000325.5:c.322_354del	NP_000316.2:p.Glu108_Asp118del
NM_001204397.1:c.301_333del	NP_001191326.1:p.Glu101_Asp111del
NM_001204398.1:c.301_333del	NP_001191327.1:p.Glu101_Asp111del
NM_001204399.1:c.163_195del	NP_001191328.1:p.Glu55_Asp65del
NM_153426.2:c.301_333del	NP_700475.1:p.Glu101_Asp111del
NM_153427.2:c.163_195del	NP_700476.1:p.Glu55_Asp65del
XM_006714235.2:c.301_333del	XP_006714298.1:p.Glu101_Asp111del
XM_011532027.1:c.163_195del	XP_011530329.1:p.Glu55_Asp65del
XM_024454090.1:c.-33_-1del	XP_024309858.1:n.-33_-1del
NM_000325.6:c.322_354del MANE Select	NP_000316.2:p.Glu108_Asp118del
NM_001204397.2:c.301_333del	NP_001191326.1:p.Glu101_Asp111del
NM_153426.3:c.301_333del	NP_700475.1:p.Glu101_Asp111del
NM_153427.3:c.163_195del	NP_700476.1:p.Glu55_Asp65del