Canonical Allele Identifier: CA804232236
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1187375885
gnomAD v3: 5-135028389-C-CT
gnomAD v4: 5-135028389-C-CT
MyVariant Identifiers: chr5:g.134364079_134364080insT (hg19) chr5:g.135028389_135028390insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028390dup , CM000667.2:g.135028390dup GRCh38
NC_000005.9:g.134364080dup , CM000667.1:g.134364080dup GRCh37
NC_000005.8:g.134391979dup NCBI36
NG_012114.1:g.10885dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*389dup MANE Select ENSP00000265340.6:n.*389dup
ENST00000265340.11:c.*389dup ENSP00000265340.6:n.*389dup
NM_002653.4:c.*389dup NP_002644.4:n.*389dup
NM_002653.5:c.*389dup MANE Select NP_002644.4:n.*389dup
Search 100 bp 5'
Search 100 bp 3'