Canonical Allele Identifier: CA2763074241

Gene: PITX2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618786_110618787insAG , CM000666.2:g.110618786_110618787insAG	GRCh38
NC_000004.11:g.111539942_111539943insAG , CM000666.1:g.111539942_111539943insAG	GRCh37
NC_000004.10:g.111759391_111759392insAG	NCBI36
NG_007120.1:g.23566_23567insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.185-99_185-98insCT	ENSP00000484763.2:n.185-99_185-98insCT
ENST00000614423.5:c.310-99_310-98insCT	ENSP00000481951.2:n.310-99_310-98insCT
ENST00000616641.5:n.378-99_378-98insCT
ENST00000644488.2:n.382-99_382-98insCT
ENST00000394595.8:c.391-99_391-98insCT	ENSP00000378095.4:n.391-99_391-98insCT
ENST00000644488.1:n.454-99_454-98insCT
ENST00000644743.1:c.412-99_412-98insCT MANE Select	ENSP00000495061.1:n.412-99_412-98insCT
ENST00000645131.1:n.343-99_343-98insCT
ENST00000306732.7:c.412-99_412-98insCT	ENSP00000304169.3:n.412-99_412-98insCT
ENST00000354925.6:c.391-99_391-98insCT	ENSP00000347004.2:n.391-99_391-98insCT
ENST00000355080.9:c.253-99_253-98insCT	ENSP00000347192.5:n.253-99_253-98insCT
ENST00000394595.7:c.185-99_185-98insCT	ENSP00000378095.3:n.185-99_185-98insCT
ENST00000394598.6:c.391-99_391-98insCT	ENSP00000378097.2:n.391-99_391-98insCT
ENST00000511837.5:c.391-99_391-98insCT	ENSP00000421454.1:n.391-99_391-98insCT
ENST00000511990.1:c.253-99_253-98insCT	ENSP00000424142.1:n.253-99_253-98insCT
ENST00000556049.1:n.718-99_718-98insCT
ENST00000607868.1:n.40_41insCT
ENST00000613094.4:c.391-99_391-98insCT	ENSP00000484763.1:n.391-99_391-98insCT
ENST00000614423.4:c.391-99_391-98insCT	ENSP00000481951.1:n.391-99_391-98insCT
ENST00000616641.4:c.253-99_253-98insCT	ENSP00000484909.1:n.253-99_253-98insCT
NM_000325.5:c.412-99_412-98insCT	NP_000316.2:n.412-99_412-98insCT
NM_001204397.1:c.391-99_391-98insCT	NP_001191326.1:n.391-99_391-98insCT
NM_001204398.1:c.391-99_391-98insCT	NP_001191327.1:n.391-99_391-98insCT
NM_001204399.1:c.253-99_253-98insCT	NP_001191328.1:n.253-99_253-98insCT
NM_153426.2:c.391-99_391-98insCT	NP_700475.1:n.391-99_391-98insCT
NM_153427.2:c.253-99_253-98insCT	NP_700476.1:n.253-99_253-98insCT
XM_006714235.2:c.391-99_391-98insCT	XP_006714298.1:n.391-99_391-98insCT
XM_011532027.1:c.253-99_253-98insCT	XP_011530329.1:n.253-99_253-98insCT
XM_024454090.1:c.58-99_58-98insCT	XP_024309858.1:n.58-99_58-98insCT
NM_000325.6:c.412-99_412-98insCT MANE Select	NP_000316.2:n.412-99_412-98insCT
NM_001204397.2:c.391-99_391-98insCT	NP_001191326.1:n.391-99_391-98insCT
NM_153426.3:c.391-99_391-98insCT	NP_700475.1:n.391-99_391-98insCT
NM_153427.3:c.253-99_253-98insCT	NP_700476.1:n.253-99_253-98insCT