Canonical Allele Identifier: CA2768505052
Gene: PITX1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028436del , CM000667.2:g.135028436del GRCh38
NC_000005.9:g.134364126del , CM000667.1:g.134364126del GRCh37
NC_000005.8:g.134392025del NCBI36
NG_012114.1:g.10841del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*345del MANE Select ENSP00000265340.6:n.*345del
ENST00000265340.11:c.*345del ENSP00000265340.6:n.*345del
NM_002653.4:c.*345del NP_002644.4:n.*345del
NM_002653.5:c.*345del MANE Select NP_002644.4:n.*345del
Search 100 bp 5'
Search 100 bp 3'