Canonical Allele Identifier: CA2671769378

Gene: PITX2

Linked Data

• gnomAD v4: 4-110618319-TCAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618321_110618323del , CM000666.2:g.110618321_110618323del	GRCh38
NC_000004.11:g.111539477_111539479del , CM000666.1:g.111539477_111539479del	GRCh37
NC_000004.10:g.111758926_111758928del	NCBI36
NG_007120.1:g.24031_24033del

Transcript Alleles

HGVS	Amino-acid change
ENST00000613094.5:c.*26_*28del	ENSP00000484763.2:n.*26_*28del
ENST00000614423.5:c.676_678del	ENSP00000481951.2:p.Leu226del
ENST00000616641.5:n.744_746del
ENST00000644488.2:n.748_750del
ENST00000394595.8:c.757_759del	ENSP00000378095.4:p.Leu253del
ENST00000644488.1:n.820_822del
ENST00000644743.1:c.778_780del MANE Select	ENSP00000495061.1:p.Leu260del
ENST00000645131.1:n.709_711del
ENST00000306732.7:c.778_780del	ENSP00000304169.3:p.Leu260del
ENST00000354925.6:c.757_759del	ENSP00000347004.2:p.Leu253del
ENST00000355080.9:c.619_621del	ENSP00000347192.5:p.Leu207del
ENST00000394595.7:c.*26_*28del	ENSP00000378095.3:n.*26_*28del
ENST00000394598.6:c.757_759del	ENSP00000378097.2:p.Leu253del
ENST00000511837.5:c.757_759del	ENSP00000421454.1:p.Leu253del
ENST00000607868.1:n.505_507del
ENST00000613094.4:c.757_759del	ENSP00000484763.1:p.Leu253del
ENST00000614423.4:c.757_759del	ENSP00000481951.1:p.Leu253del
ENST00000616641.4:c.619_621del	ENSP00000484909.1:p.Leu207del
NM_000325.5:c.778_780del	NP_000316.2:p.Leu260del
NM_001204397.1:c.757_759del	NP_001191326.1:p.Leu253del
NM_001204398.1:c.757_759del	NP_001191327.1:p.Leu253del
NM_001204399.1:c.619_621del	NP_001191328.1:p.Leu207del
NM_153426.2:c.757_759del	NP_700475.1:p.Leu253del
NM_153427.2:c.619_621del	NP_700476.1:p.Leu207del
XM_006714235.2:c.757_759del	XP_006714298.1:p.Leu253del
XM_011532027.1:c.619_621del	XP_011530329.1:p.Leu207del
XM_024454090.1:c.424_426del	XP_024309858.1:p.Leu142del
NM_000325.6:c.778_780del MANE Select	NP_000316.2:p.Leu260del
NM_001204397.2:c.757_759del	NP_001191326.1:p.Leu253del
NM_153426.3:c.757_759del	NP_700475.1:p.Leu253del
NM_153427.3:c.619_621del	NP_700476.1:p.Leu207del