Canonical Allele Identifier: CA554052390

Gene: PITX2

Linked Data

• dbSNP Id: rs1185912717
• gnomAD v2: 4-111539868-GCAAA-G
• gnomAD v3: 4-110618712-GCAAA-G
• gnomAD v4: 4-110618712-GCAAA-G
• MyVariant Identifiers: chr4:g.111539869_111539872del (hg19) ; chr4:g.110618713_110618716del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618715_110618718del , CM000666.2:g.110618715_110618718del	GRCh38
NC_000004.11:g.111539871_111539874del , CM000666.1:g.111539871_111539874del	GRCh37
NC_000004.10:g.111759320_111759323del	NCBI36
NG_007120.1:g.23637_23640del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.185-28_185-25del	ENSP00000484763.2:n.185-28_185-25del
ENST00000614423.5:c.310-28_310-25del	ENSP00000481951.2:n.310-28_310-25del
ENST00000616641.5:n.378-28_378-25del
ENST00000644488.2:n.382-28_382-25del
ENST00000394595.8:c.391-28_391-25del	ENSP00000378095.4:n.391-28_391-25del
ENST00000644488.1:n.454-28_454-25del
ENST00000644743.1:c.412-28_412-25del MANE Select	ENSP00000495061.1:n.412-28_412-25del
ENST00000645131.1:n.343-28_343-25del
ENST00000306732.7:c.412-28_412-25del	ENSP00000304169.3:n.412-28_412-25del
ENST00000354925.6:c.391-28_391-25del	ENSP00000347004.2:n.391-28_391-25del
ENST00000355080.9:c.253-28_253-25del	ENSP00000347192.5:n.253-28_253-25del
ENST00000394595.7:c.185-28_185-25del	ENSP00000378095.3:n.185-28_185-25del
ENST00000394598.6:c.391-28_391-25del	ENSP00000378097.2:n.391-28_391-25del
ENST00000511837.5:c.391-28_391-25del	ENSP00000421454.1:n.391-28_391-25del
ENST00000511990.1:c.253-28_253-25del	ENSP00000424142.1:n.253-28_253-25del
ENST00000556049.1:n.718-28_718-25del
ENST00000607868.1:n.111_114del
ENST00000613094.4:c.391-28_391-25del	ENSP00000484763.1:n.391-28_391-25del
ENST00000614423.4:c.391-28_391-25del	ENSP00000481951.1:n.391-28_391-25del
ENST00000616641.4:c.253-28_253-25del	ENSP00000484909.1:n.253-28_253-25del
NM_000325.5:c.412-28_412-25del	NP_000316.2:n.412-28_412-25del
NM_001204397.1:c.391-28_391-25del	NP_001191326.1:n.391-28_391-25del
NM_001204398.1:c.391-28_391-25del	NP_001191327.1:n.391-28_391-25del
NM_001204399.1:c.253-28_253-25del	NP_001191328.1:n.253-28_253-25del
NM_153426.2:c.391-28_391-25del	NP_700475.1:n.391-28_391-25del
NM_153427.2:c.253-28_253-25del	NP_700476.1:n.253-28_253-25del
XM_006714235.2:c.391-28_391-25del	XP_006714298.1:n.391-28_391-25del
XM_011532027.1:c.253-28_253-25del	XP_011530329.1:n.253-28_253-25del
XM_024454090.1:c.58-28_58-25del	XP_024309858.1:n.58-28_58-25del
NM_000325.6:c.412-28_412-25del MANE Select	NP_000316.2:n.412-28_412-25del
NM_001204397.2:c.391-28_391-25del	NP_001191326.1:n.391-28_391-25del
NM_153426.3:c.391-28_391-25del	NP_700475.1:n.391-28_391-25del
NM_153427.3:c.253-28_253-25del	NP_700476.1:n.253-28_253-25del