Canonical Allele Identifier: CA213051
Gene: PITX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 37253
ClinVar RCV Id: RCV000030814
dbSNP Id: rs730882191

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028929_135028963del , CM000667.2:g.135028929_135028963del GRCh38
NC_000005.9:g.134364619_134364653del , CM000667.1:g.134364619_134364653del GRCh37
NC_000005.8:g.134392518_134392552del NCBI36
NG_012114.1:g.10316_10350del

Transcript Alleles

HGVS Amino-acid change
ENST00000265340.12:c.765_799del MANE Select ENSP00000265340.6:p.Ala256ArgfsTer?
ENST00000265340.11:c.765_799del ENSP00000265340.6:p.Ala256ArgfsTer?
ENST00000506438.5:c.765_799del ENSP00000427542.1:p.Ala256ArgfsTer?
NM_002653.4:c.765_799del NP_002644.4:p.Ala256ArgfsTer?
NM_002653.5:c.765_799del MANE Select NP_002644.4:p.Ala256ArgfsTer?