Canonical Allele Identifier: CA2675353255
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135028390-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028395del , CM000667.2:g.135028395del GRCh38
NC_000005.9:g.134364085del , CM000667.1:g.134364085del GRCh37
NC_000005.8:g.134391984del NCBI36
NG_012114.1:g.10884del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*388del MANE Select ENSP00000265340.6:n.*388del
ENST00000265340.11:c.*388del ENSP00000265340.6:n.*388del
NM_002653.4:c.*388del NP_002644.4:n.*388del
NM_002653.5:c.*388del MANE Select NP_002644.4:n.*388del
Search 100 bp 5'
Search 100 bp 3'