Canonical Allele Identifier: CA2763074192

Gene: PITX2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618767_110618768insAGAT , CM000666.2:g.110618767_110618768insAGAT	GRCh38
NC_000004.11:g.111539923_111539924insAGAT , CM000666.1:g.111539923_111539924insAGAT	GRCh37
NC_000004.10:g.111759372_111759373insAGAT	NCBI36
NG_007120.1:g.23585_23586insATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.185-80_185-79insATCT	ENSP00000484763.2:n.185-80_185-79insATCT
ENST00000614423.5:c.310-80_310-79insATCT	ENSP00000481951.2:n.310-80_310-79insATCT
ENST00000616641.5:n.378-80_378-79insATCT
ENST00000644488.2:n.382-80_382-79insATCT
ENST00000394595.8:c.391-80_391-79insATCT	ENSP00000378095.4:n.391-80_391-79insATCT
ENST00000644488.1:n.454-80_454-79insATCT
ENST00000644743.1:c.412-80_412-79insATCT MANE Select	ENSP00000495061.1:n.412-80_412-79insATCT
ENST00000645131.1:n.343-80_343-79insATCT
ENST00000306732.7:c.412-80_412-79insATCT	ENSP00000304169.3:n.412-80_412-79insATCT
ENST00000354925.6:c.391-80_391-79insATCT	ENSP00000347004.2:n.391-80_391-79insATCT
ENST00000355080.9:c.253-80_253-79insATCT	ENSP00000347192.5:n.253-80_253-79insATCT
ENST00000394595.7:c.185-80_185-79insATCT	ENSP00000378095.3:n.185-80_185-79insATCT
ENST00000394598.6:c.391-80_391-79insATCT	ENSP00000378097.2:n.391-80_391-79insATCT
ENST00000511837.5:c.391-80_391-79insATCT	ENSP00000421454.1:n.391-80_391-79insATCT
ENST00000511990.1:c.253-80_253-79insATCT	ENSP00000424142.1:n.253-80_253-79insATCT
ENST00000556049.1:n.718-80_718-79insATCT
ENST00000607868.1:n.59_60insATCT
ENST00000613094.4:c.391-80_391-79insATCT	ENSP00000484763.1:n.391-80_391-79insATCT
ENST00000614423.4:c.391-80_391-79insATCT	ENSP00000481951.1:n.391-80_391-79insATCT
ENST00000616641.4:c.253-80_253-79insATCT	ENSP00000484909.1:n.253-80_253-79insATCT
NM_000325.5:c.412-80_412-79insATCT	NP_000316.2:n.412-80_412-79insATCT
NM_001204397.1:c.391-80_391-79insATCT	NP_001191326.1:n.391-80_391-79insATCT
NM_001204398.1:c.391-80_391-79insATCT	NP_001191327.1:n.391-80_391-79insATCT
NM_001204399.1:c.253-80_253-79insATCT	NP_001191328.1:n.253-80_253-79insATCT
NM_153426.2:c.391-80_391-79insATCT	NP_700475.1:n.391-80_391-79insATCT
NM_153427.2:c.253-80_253-79insATCT	NP_700476.1:n.253-80_253-79insATCT
XM_006714235.2:c.391-80_391-79insATCT	XP_006714298.1:n.391-80_391-79insATCT
XM_011532027.1:c.253-80_253-79insATCT	XP_011530329.1:n.253-80_253-79insATCT
XM_024454090.1:c.58-80_58-79insATCT	XP_024309858.1:n.58-80_58-79insATCT
NM_000325.6:c.412-80_412-79insATCT MANE Select	NP_000316.2:n.412-80_412-79insATCT
NM_001204397.2:c.391-80_391-79insATCT	NP_001191326.1:n.391-80_391-79insATCT
NM_153426.3:c.391-80_391-79insATCT	NP_700475.1:n.391-80_391-79insATCT
NM_153427.3:c.253-80_253-79insATCT	NP_700476.1:n.253-80_253-79insATCT