Canonical Allele Identifier: CA10616928

Gene: PITX2

Linked Data

• ClinVar Variation Id: 347292
• ClinVar RCV Id: RCV000265475 ; RCV000297372 ; RCV000300902 ; RCV000304266 ; RCV000335991 ; RCV000357833 ; RCV000405211
• dbSNP Id: rs886059004
• gnomAD v2: 4-111538902-TAAC-T
• gnomAD v3: 4-110617746-TAAC-T
• gnomAD v4: 4-110617746-TAAC-T
• MyVariant Identifiers: chr4:g.111538903_111538905del (hg19) ; chr4:g.110617747_110617749del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110617750_110617752del , CM000666.2:g.110617750_110617752del	GRCh38
NC_000004.11:g.111538906_111538908del , CM000666.1:g.111538906_111538908del	GRCh37
NC_000004.10:g.111758355_111758357del	NCBI36
NG_007120.1:g.24604_24606del

Transcript Alleles

HGVS	Amino-acid change
ENST00000613094.5:c.*599_*601del	ENSP00000484763.2:n.*599_*601del
ENST00000614423.5:c.*376_*378del	ENSP00000481951.2:n.*376_*378del
ENST00000394595.8:c.*376_*378del	ENSP00000378095.4:n.*376_*378del
ENST00000644488.1:n.1393_1395del
ENST00000644743.1:c.*376_*378del MANE Select	ENSP00000495061.1:n.*376_*378del
ENST00000645131.1:n.1282_1284del
ENST00000306732.7:c.*376_*378del	ENSP00000304169.3:n.*376_*378del
ENST00000354925.6:c.*376_*378del	ENSP00000347004.2:n.*376_*378del
ENST00000355080.9:c.*376_*378del	ENSP00000347192.5:n.*376_*378del
ENST00000394595.7:c.*599_*601del	ENSP00000378095.3:n.*599_*601del
ENST00000394598.6:c.*376_*378del	ENSP00000378097.2:n.*376_*378del
ENST00000607868.1:n.1078_1080del
ENST00000613094.4:c.*376_*378del	ENSP00000484763.1:n.*376_*378del
ENST00000614423.4:c.*376_*378del	ENSP00000481951.1:n.*376_*378del
ENST00000616641.4:c.*376_*378del	ENSP00000484909.1:n.*376_*378del
NM_000325.5:c.*376_*378del	NP_000316.2:n.*376_*378del
NM_001204397.1:c.*376_*378del	NP_001191326.1:n.*376_*378del
NM_001204398.1:c.*376_*378del	NP_001191327.1:n.*376_*378del
NM_001204399.1:c.*376_*378del	NP_001191328.1:n.*376_*378del
NM_153426.2:c.*376_*378del	NP_700475.1:n.*376_*378del
NM_153427.2:c.*376_*378del	NP_700476.1:n.*376_*378del
XM_006714235.2:c.*376_*378del	XP_006714298.1:n.*376_*378del
XM_011532027.1:c.*376_*378del	XP_011530329.1:n.*376_*378del
XM_024454090.1:c.*376_*378del	XP_024309858.1:n.*376_*378del
NM_000325.6:c.*376_*378del MANE Select	NP_000316.2:n.*376_*378del
NM_001204397.2:c.*376_*378del	NP_001191326.1:n.*376_*378del
NM_153426.3:c.*376_*378del	NP_700475.1:n.*376_*378del
NM_153427.3:c.*376_*378del	NP_700476.1:n.*376_*378del