Canonical Allele Identifier: CA2675354036
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135031309-GGC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031311_135031312del , CM000667.2:g.135031311_135031312del GRCh38
NC_000005.9:g.134367001_134367002del , CM000667.1:g.134367001_134367002del GRCh37
NC_000005.8:g.134394900_134394901del NCBI36
NG_012114.1:g.7964_7965del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.367_368del MANE Select ENSP00000265340.6:p.Ala123ArgfsTer23
ENST00000265340.11:c.367_368del ENSP00000265340.6:p.Ala123ArgfsTer23
ENST00000503586.1:c.489_490del
ENST00000504936.1:n.700_701del
ENST00000506438.5:c.367_368del ENSP00000427542.1:p.Ala123ArgfsTer23
ENST00000507253.5:c.367_368del ENSP00000422908.1:p.Ala123ArgfsTer?
NM_002653.4:c.367_368del NP_002644.4:p.Ala123ArgfsTer23
NM_002653.5:c.367_368del MANE Select NP_002644.4:p.Ala123ArgfsTer23
Search 100 bp 5'
Search 100 bp 3'