Canonical Allele Identifier: CA128009064
Gene: PITX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1261620
ClinVar RCV Id: RCV001674198
dbSNP Id: rs71660434
gnomAD v2: 5-134364406-TCCGCGC-T
gnomAD v3: 5-135028716-TCCGCGC-T
gnomAD v4: 5-135028716-TCCGCGC-T
MyVariant Identifiers: chr5:g.134364407_134364412del (hg19) chr5:g.135028717_135028722del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028731_135028736del , CM000667.2:g.135028731_135028736del GRCh38
NC_000005.9:g.134364421_134364426del , CM000667.1:g.134364421_134364426del GRCh37
NC_000005.8:g.134392320_134392325del NCBI36
NG_012114.1:g.10553_10558del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*57_*62del MANE Select ENSP00000265340.6:n.*57_*62del
ENST00000265340.11:c.*57_*62del ENSP00000265340.6:n.*57_*62del
ENST00000506438.5:c.*57_*62del ENSP00000427542.1:n.*57_*62del
NM_002653.4:c.*57_*62del NP_002644.4:n.*57_*62del
NM_002653.5:c.*57_*62del MANE Select NP_002644.4:n.*57_*62del
Search 100 bp 5'
Search 100 bp 3'