Canonical Allele Identifier: CA785300292

Gene: PITX2

Linked Data

• dbSNP Id: rs1289101192
• gnomAD v3: 4-110617821-GCTAAA-G
• gnomAD v4: 4-110617821-GCTAAA-G
• MyVariant Identifiers: chr4:g.111538978_111538982del (hg19) ; chr4:g.110617822_110617826del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110617824_110617828del , CM000666.2:g.110617824_110617828del	GRCh38
NC_000004.11:g.111538980_111538984del , CM000666.1:g.111538980_111538984del	GRCh37
NC_000004.10:g.111758429_111758433del	NCBI36
NG_007120.1:g.24527_24531del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.*522_*526del	ENSP00000484763.2:n.*522_*526del
ENST00000614423.5:c.*299_*303del	ENSP00000481951.2:n.*299_*303del
ENST00000394595.8:c.*299_*303del	ENSP00000378095.4:n.*299_*303del
ENST00000644488.1:n.1316_1320del
ENST00000644743.1:c.*299_*303del MANE Select	ENSP00000495061.1:n.*299_*303del
ENST00000645131.1:n.1205_1209del
ENST00000306732.7:c.*299_*303del	ENSP00000304169.3:n.*299_*303del
ENST00000354925.6:c.*299_*303del	ENSP00000347004.2:n.*299_*303del
ENST00000355080.9:c.*299_*303del	ENSP00000347192.5:n.*299_*303del
ENST00000394595.7:c.*522_*526del	ENSP00000378095.3:n.*522_*526del
ENST00000394598.6:c.*299_*303del	ENSP00000378097.2:n.*299_*303del
ENST00000607868.1:n.1001_1005del
ENST00000613094.4:c.*299_*303del	ENSP00000484763.1:n.*299_*303del
ENST00000614423.4:c.*299_*303del	ENSP00000481951.1:n.*299_*303del
ENST00000616641.4:c.*299_*303del	ENSP00000484909.1:n.*299_*303del
NM_000325.5:c.*299_*303del	NP_000316.2:n.*299_*303del
NM_001204397.1:c.*299_*303del	NP_001191326.1:n.*299_*303del
NM_001204398.1:c.*299_*303del	NP_001191327.1:n.*299_*303del
NM_001204399.1:c.*299_*303del	NP_001191328.1:n.*299_*303del
NM_153426.2:c.*299_*303del	NP_700475.1:n.*299_*303del
NM_153427.2:c.*299_*303del	NP_700476.1:n.*299_*303del
XM_006714235.2:c.*299_*303del	XP_006714298.1:n.*299_*303del
XM_011532027.1:c.*299_*303del	XP_011530329.1:n.*299_*303del
XM_024454090.1:c.*299_*303del	XP_024309858.1:n.*299_*303del
NM_000325.6:c.*299_*303del MANE Select	NP_000316.2:n.*299_*303del
NM_001204397.2:c.*299_*303del	NP_001191326.1:n.*299_*303del
NM_153426.3:c.*299_*303del	NP_700475.1:n.*299_*303del
NM_153427.3:c.*299_*303del	NP_700476.1:n.*299_*303del