Canonical Allele Identifier: CA804232610
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1478261328
gnomAD v3: 5-135028683-T-TG
gnomAD v4: 5-135028683-T-TG
MyVariant Identifiers: chr5:g.134364373_134364374insG (hg19) chr5:g.135028683_135028684insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028687dup , CM000667.2:g.135028687dup GRCh38
NC_000005.9:g.134364377dup , CM000667.1:g.134364377dup GRCh37
NC_000005.8:g.134392276dup NCBI36
NG_012114.1:g.10591dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*95dup MANE Select ENSP00000265340.6:n.*95dup
ENST00000265340.11:c.*95dup ENSP00000265340.6:n.*95dup
ENST00000506438.5:c.*95dup ENSP00000427542.1:n.*95dup
NM_002653.4:c.*95dup NP_002644.4:n.*95dup
NM_002653.5:c.*95dup MANE Select NP_002644.4:n.*95dup
Search 100 bp 5'
Search 100 bp 3'