Canonical Allele Identifier: CA1066675161

Gene: PITX2

Linked Data

• dbSNP Id: rs1269199885
• gnomAD v3: 4-110617596-ATT-A
• gnomAD v4: 4-110617596-ATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110617601_110617602del , CM000666.2:g.110617601_110617602del	GRCh38
NC_000004.11:g.111538757_111538758del , CM000666.1:g.111538757_111538758del	GRCh37
NC_000004.10:g.111758206_111758207del	NCBI36
NG_007120.1:g.24755_24756del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.*750_*751del	ENSP00000484763.2:n.*750_*751del
ENST00000614423.5:c.*527_*528del	ENSP00000481951.2:n.*527_*528del
ENST00000394595.8:c.*527_*528del	ENSP00000378095.4:n.*527_*528del
ENST00000644488.1:n.1544_1545del
ENST00000644743.1:c.*527_*528del MANE Select	ENSP00000495061.1:n.*527_*528del
ENST00000645131.1:n.1433_1434del
ENST00000306732.7:c.*527_*528del	ENSP00000304169.3:n.*527_*528del
ENST00000354925.6:c.*527_*528del	ENSP00000347004.2:n.*527_*528del
ENST00000355080.9:c.*527_*528del	ENSP00000347192.5:n.*527_*528del
ENST00000394595.7:c.*750_*751del	ENSP00000378095.3:n.*750_*751del
ENST00000394598.6:c.*527_*528del	ENSP00000378097.2:n.*527_*528del
ENST00000607868.1:n.1229_1230del
ENST00000613094.4:c.*527_*528del	ENSP00000484763.1:n.*527_*528del
ENST00000614423.4:c.*527_*528del	ENSP00000481951.1:n.*527_*528del
ENST00000616641.4:c.*527_*528del	ENSP00000484909.1:n.*527_*528del
NM_000325.5:c.*527_*528del	NP_000316.2:n.*527_*528del
NM_001204397.1:c.*527_*528del	NP_001191326.1:n.*527_*528del
NM_001204398.1:c.*527_*528del	NP_001191327.1:n.*527_*528del
NM_001204399.1:c.*527_*528del	NP_001191328.1:n.*527_*528del
NM_153426.2:c.*527_*528del	NP_700475.1:n.*527_*528del
NM_153427.2:c.*527_*528del	NP_700476.1:n.*527_*528del
XM_006714235.2:c.*527_*528del	XP_006714298.1:n.*527_*528del
XM_011532027.1:c.*527_*528del	XP_011530329.1:n.*527_*528del
XM_024454090.1:c.*527_*528del	XP_024309858.1:n.*527_*528del
NM_000325.6:c.*527_*528del MANE Select	NP_000316.2:n.*527_*528del
NM_001204397.2:c.*527_*528del	NP_001191326.1:n.*527_*528del
NM_153426.3:c.*527_*528del	NP_700475.1:n.*527_*528del
NM_153427.3:c.*527_*528del	NP_700476.1:n.*527_*528del