Canonical Allele Identifier: CA917587354
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1580924819
gnomAD v3: 5-135028390-T-TC
gnomAD v4: 5-135028390-T-TC
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Genomic Alleles

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

Transcript Alleles

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