Canonical Allele Identifier: CA2763074167

Gene: PITX2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618755_110618756del , CM000666.2:g.110618755_110618756del	GRCh38
NC_000004.11:g.111539911_111539912del , CM000666.1:g.111539911_111539912del	GRCh37
NC_000004.10:g.111759360_111759361del	NCBI36
NG_007120.1:g.23597_23598del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.185-68_185-67del	ENSP00000484763.2:n.185-68_185-67del
ENST00000614423.5:c.310-68_310-67del	ENSP00000481951.2:n.310-68_310-67del
ENST00000616641.5:n.378-68_378-67del
ENST00000644488.2:n.382-68_382-67del
ENST00000394595.8:c.391-68_391-67del	ENSP00000378095.4:n.391-68_391-67del
ENST00000644488.1:n.454-68_454-67del
ENST00000644743.1:c.412-68_412-67del MANE Select	ENSP00000495061.1:n.412-68_412-67del
ENST00000645131.1:n.343-68_343-67del
ENST00000306732.7:c.412-68_412-67del	ENSP00000304169.3:n.412-68_412-67del
ENST00000354925.6:c.391-68_391-67del	ENSP00000347004.2:n.391-68_391-67del
ENST00000355080.9:c.253-68_253-67del	ENSP00000347192.5:n.253-68_253-67del
ENST00000394595.7:c.185-68_185-67del	ENSP00000378095.3:n.185-68_185-67del
ENST00000394598.6:c.391-68_391-67del	ENSP00000378097.2:n.391-68_391-67del
ENST00000511837.5:c.391-68_391-67del	ENSP00000421454.1:n.391-68_391-67del
ENST00000511990.1:c.253-68_253-67del	ENSP00000424142.1:n.253-68_253-67del
ENST00000556049.1:n.718-68_718-67del
ENST00000607868.1:n.71_72del
ENST00000613094.4:c.391-68_391-67del	ENSP00000484763.1:n.391-68_391-67del
ENST00000614423.4:c.391-68_391-67del	ENSP00000481951.1:n.391-68_391-67del
ENST00000616641.4:c.253-68_253-67del	ENSP00000484909.1:n.253-68_253-67del
NM_000325.5:c.412-68_412-67del	NP_000316.2:n.412-68_412-67del
NM_001204397.1:c.391-68_391-67del	NP_001191326.1:n.391-68_391-67del
NM_001204398.1:c.391-68_391-67del	NP_001191327.1:n.391-68_391-67del
NM_001204399.1:c.253-68_253-67del	NP_001191328.1:n.253-68_253-67del
NM_153426.2:c.391-68_391-67del	NP_700475.1:n.391-68_391-67del
NM_153427.2:c.253-68_253-67del	NP_700476.1:n.253-68_253-67del
XM_006714235.2:c.391-68_391-67del	XP_006714298.1:n.391-68_391-67del
XM_011532027.1:c.253-68_253-67del	XP_011530329.1:n.253-68_253-67del
XM_024454090.1:c.58-68_58-67del	XP_024309858.1:n.58-68_58-67del
NM_000325.6:c.412-68_412-67del MANE Select	NP_000316.2:n.412-68_412-67del
NM_001204397.2:c.391-68_391-67del	NP_001191326.1:n.391-68_391-67del
NM_153426.3:c.391-68_391-67del	NP_700475.1:n.391-68_391-67del
NM_153427.3:c.253-68_253-67del	NP_700476.1:n.253-68_253-67del