Canonical Allele Identifier: CA2675354282
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135031801-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031802del , CM000667.2:g.135031802del GRCh38
NC_000005.9:g.134367492del , CM000667.1:g.134367492del GRCh37
NC_000005.8:g.134395391del NCBI36
NG_012114.1:g.7473del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.170-294del MANE Select ENSP00000265340.6:n.170-294del
ENST00000265340.11:c.170-294del ENSP00000265340.6:n.170-294del
ENST00000502676.1:c.170-294del ENSP00000423624.1:n.170-294del
ENST00000503586.1:c.292-294del
ENST00000504936.1:n.209del
ENST00000506438.5:c.170-294del ENSP00000427542.1:n.170-294del
ENST00000507253.5:c.170-294del ENSP00000422908.1:n.170-294del
NM_002653.4:c.170-294del NP_002644.4:n.170-294del
NM_002653.5:c.170-294del MANE Select NP_002644.4:n.170-294del
Search 100 bp 5'
Search 100 bp 3'