Canonical Allele Identifier: CA2675353458
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135028580-T-TG
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028580_135028581insG , CM000667.2:g.135028580_135028581insG GRCh38
NC_000005.9:g.134364270_134364271insG , CM000667.1:g.134364270_134364271insG GRCh37
NC_000005.8:g.134392169_134392170insG NCBI36
NG_012114.1:g.10694_10695insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*198_*199insC MANE Select ENSP00000265340.6:n.*198_*199insC
ENST00000265340.11:c.*198_*199insC ENSP00000265340.6:n.*198_*199insC
ENST00000506438.5:c.*198_*199insC ENSP00000427542.1:n.*198_*199insC
NM_002653.4:c.*198_*199insC NP_002644.4:n.*198_*199insC
NM_002653.5:c.*198_*199insC MANE Select NP_002644.4:n.*198_*199insC
Search 100 bp 5'
Search 100 bp 3'