Canonical Allele Identifier: CA554052381

Gene: PITX2

Linked Data

• dbSNP Id: rs1180720358
• gnomAD v2: 4-111539700-AGTT-A
• gnomAD v3: 4-110618544-AGTT-A
• gnomAD v4: 4-110618544-AGTT-A
• MyVariant Identifiers: chr4:g.111539701_111539703del (hg19) ; chr4:g.110618545_110618547del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618550_110618552del , CM000666.2:g.110618550_110618552del	GRCh38
NC_000004.11:g.111539706_111539708del , CM000666.1:g.111539706_111539708del	GRCh37
NC_000004.10:g.111759155_111759157del	NCBI36
NG_007120.1:g.23806_23808del

Transcript Alleles

HGVS	Amino-acid change
ENST00000613094.5:c.326_328del	ENSP00000484763.2:p.Gln109del
ENST00000614423.5:c.451_453del	ENSP00000481951.2:p.Asn151del
ENST00000616641.5:n.519_521del
ENST00000644488.2:n.523_525del
ENST00000394595.8:c.532_534del	ENSP00000378095.4:p.Asn178del
ENST00000644488.1:n.595_597del
ENST00000644743.1:c.553_555del MANE Select	ENSP00000495061.1:p.Asn185del
ENST00000645131.1:n.484_486del
ENST00000306732.7:c.553_555del	ENSP00000304169.3:p.Asn185del
ENST00000354925.6:c.532_534del	ENSP00000347004.2:p.Asn178del
ENST00000355080.9:c.394_396del	ENSP00000347192.5:p.Asn132del
ENST00000394595.7:c.326_328del	ENSP00000378095.3:p.Gln109del
ENST00000394598.6:c.532_534del	ENSP00000378097.2:p.Asn178del
ENST00000511837.5:c.532_534del	ENSP00000421454.1:p.Asn178del
ENST00000556049.1:n.859_861del
ENST00000607868.1:n.280_282del
ENST00000613094.4:c.532_534del	ENSP00000484763.1:p.Asn178del
ENST00000614423.4:c.532_534del	ENSP00000481951.1:p.Asn178del
ENST00000616641.4:c.394_396del	ENSP00000484909.1:p.Asn132del
NM_000325.5:c.553_555del	NP_000316.2:p.Asn185del
NM_001204397.1:c.532_534del	NP_001191326.1:p.Asn178del
NM_001204398.1:c.532_534del	NP_001191327.1:p.Asn178del
NM_001204399.1:c.394_396del	NP_001191328.1:p.Asn132del
NM_153426.2:c.532_534del	NP_700475.1:p.Asn178del
NM_153427.2:c.394_396del	NP_700476.1:p.Asn132del
XM_006714235.2:c.532_534del	XP_006714298.1:p.Asn178del
XM_011532027.1:c.394_396del	XP_011530329.1:p.Asn132del
XM_024454090.1:c.199_201del	XP_024309858.1:p.Asn67del
NM_000325.6:c.553_555del MANE Select	NP_000316.2:p.Asn185del
NM_001204397.2:c.532_534del	NP_001191326.1:p.Asn178del
NM_153426.3:c.532_534del	NP_700475.1:p.Asn178del
NM_153427.3:c.394_396del	NP_700476.1:p.Asn132del