Canonical Allele Identifier: CA562836081
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v2: 5-134364273-GAGGGCAGAGT-G
gnomAD v3: 5-135028583-GAGGGCAGAGT-G
gnomAD v4: 5-135028583-GAGGGCAGAGT-G
MyVariant Identifiers: chr5:g.134364274_134364283del (hg19) chr5:g.135028584_135028593del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028584_135028593del , CM000667.2:g.135028584_135028593del GRCh38
NC_000005.9:g.134364274_134364283del , CM000667.1:g.134364274_134364283del GRCh37
NC_000005.8:g.134392173_134392182del NCBI36
NG_012114.1:g.10682_10691del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*186_*195del MANE Select ENSP00000265340.6:n.*186_*195del
ENST00000265340.11:c.*186_*195del ENSP00000265340.6:n.*186_*195del
ENST00000506438.5:c.*186_*195del ENSP00000427542.1:n.*186_*195del
NM_002653.4:c.*186_*195del NP_002644.4:n.*186_*195del
NM_002653.5:c.*186_*195del MANE Select NP_002644.4:n.*186_*195del
Search 100 bp 5'
Search 100 bp 3'