Canonical Allele Identifier: CA2507883004

Gene: PITX2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110621388_110621391del , CM000666.2:g.110621388_110621391del	GRCh38
NC_000004.11:g.111542544_111542547del , CM000666.1:g.111542544_111542547del	GRCh37
NC_000004.10:g.111761993_111761996del	NCBI36
NG_007120.1:g.20962_20965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.185-2703_185-2700del	ENSP00000484763.2:n.185-2703_185-2700del
ENST00000614423.5:c.104-22_104-19del	ENSP00000481951.2:n.104-22_104-19del
ENST00000616641.5:n.172-22_172-19del
ENST00000644488.2:n.176-22_176-19del
ENST00000394595.8:c.185-22_185-19del	ENSP00000378095.4:n.185-22_185-19del
ENST00000644488.1:n.248-22_248-19del
ENST00000644743.1:c.206-22_206-19del MANE Select	ENSP00000495061.1:n.206-22_206-19del
ENST00000645131.1:n.137-22_137-19del
ENST00000306732.7:c.206-22_206-19del	ENSP00000304169.3:n.206-22_206-19del
ENST00000354925.6:c.185-22_185-19del	ENSP00000347004.2:n.185-22_185-19del
ENST00000355080.9:c.47-22_47-19del	ENSP00000347192.5:n.47-22_47-19del
ENST00000394595.7:c.185-2703_185-2700del	ENSP00000378095.3:n.185-2703_185-2700del
ENST00000394598.6:c.185-22_185-19del	ENSP00000378097.2:n.185-22_185-19del
ENST00000511837.5:c.185-22_185-19del	ENSP00000421454.1:n.185-22_185-19del
ENST00000511990.1:c.47-22_47-19del	ENSP00000424142.1:n.47-22_47-19del
ENST00000557119.2:c.206-22_206-19del	ENSP00000475617.1:n.206-22_206-19del
ENST00000613094.4:c.185-22_185-19del	ENSP00000484763.1:n.185-22_185-19del
ENST00000614423.4:c.185-22_185-19del	ENSP00000481951.1:n.185-22_185-19del
ENST00000616641.4:c.47-22_47-19del	ENSP00000484909.1:n.47-22_47-19del
NM_000325.5:c.206-22_206-19del	NP_000316.2:n.206-22_206-19del
NM_001204397.1:c.185-22_185-19del	NP_001191326.1:n.185-22_185-19del
NM_001204398.1:c.185-22_185-19del	NP_001191327.1:n.185-22_185-19del
NM_001204399.1:c.47-22_47-19del	NP_001191328.1:n.47-22_47-19del
NM_153426.2:c.185-22_185-19del	NP_700475.1:n.185-22_185-19del
NM_153427.2:c.47-22_47-19del	NP_700476.1:n.47-22_47-19del
XM_006714235.2:c.185-22_185-19del	XP_006714298.1:n.185-22_185-19del
XM_011532027.1:c.47-22_47-19del	XP_011530329.1:n.47-22_47-19del
XM_024454090.1:c.-149-22_-149-19del	XP_024309858.1:n.-149-22_-149-19del
NM_000325.6:c.206-22_206-19del MANE Select	NP_000316.2:n.206-22_206-19del
NM_001204397.2:c.185-22_185-19del	NP_001191326.1:n.185-22_185-19del
NM_153426.3:c.185-22_185-19del	NP_700475.1:n.185-22_185-19del
NM_153427.3:c.47-22_47-19del	NP_700476.1:n.47-22_47-19del