Canonical Allele Identifier: CA2675353466
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135028588-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028589del , CM000667.2:g.135028589del GRCh38
NC_000005.9:g.134364279del , CM000667.1:g.134364279del GRCh37
NC_000005.8:g.134392178del NCBI36
NG_012114.1:g.10686del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*190del MANE Select ENSP00000265340.6:n.*190del
ENST00000265340.11:c.*190del ENSP00000265340.6:n.*190del
ENST00000506438.5:c.*190del ENSP00000427542.1:n.*190del
NM_002653.4:c.*190del NP_002644.4:n.*190del
NM_002653.5:c.*190del MANE Select NP_002644.4:n.*190del
Search 100 bp 5'
Search 100 bp 3'