Canonical Allele Identifier: CA2580072748
Gene: PITX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2499600
ClinVar RCV Id: RCV003223529
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031387del , CM000667.2:g.135031387del GRCh38
NC_000005.9:g.134367077del , CM000667.1:g.134367077del GRCh37
NC_000005.8:g.134394976del NCBI36
NG_012114.1:g.7889del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.292del MANE Select ENSP00000265340.6:p.Ser98AlafsTer7
ENST00000265340.11:c.292del ENSP00000265340.6:p.Ser98AlafsTer7
ENST00000502676.1:c.292del ENSP00000423624.1:p.Ser98AlafsTer7
ENST00000503586.1:c.414del
ENST00000504936.1:n.625del
ENST00000506438.5:c.292del ENSP00000427542.1:p.Ser98AlafsTer7
ENST00000507253.5:c.292del ENSP00000422908.1:p.Ser98AlafsTer7
NM_002653.4:c.292del NP_002644.4:p.Ser98AlafsTer7
NM_002653.5:c.292del MANE Select NP_002644.4:p.Ser98AlafsTer7
Search 100 bp 5'
Search 100 bp 3'