Canonical Allele Identifier: CA804232309
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1462226137
gnomAD v4: 5-135028469-C-CAT
MyVariant Identifiers: chr5:g.134364159_134364160insAT (hg19) chr5:g.135028469_135028470insAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028470_135028471insTA , CM000667.2:g.135028470_135028471insTA GRCh38
NC_000005.9:g.134364160_134364161insTA , CM000667.1:g.134364160_134364161insTA GRCh37
NC_000005.8:g.134392059_134392060insTA NCBI36
NG_012114.1:g.10805_10806insAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*309_*310insAT MANE Select ENSP00000265340.6:n.*309_*310insAT
ENST00000265340.11:c.*309_*310insAT ENSP00000265340.6:n.*309_*310insAT
NM_002653.4:c.*309_*310insAT NP_002644.4:n.*309_*310insAT
NM_002653.5:c.*309_*310insAT MANE Select NP_002644.4:n.*309_*310insAT
Search 100 bp 5'
Search 100 bp 3'