Canonical Allele Identifier: CA2604555984
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v3: 5-135028581-TG-T
gnomAD v4: 5-135028581-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028583del , CM000667.2:g.135028583del GRCh38
NC_000005.9:g.134364273del , CM000667.1:g.134364273del GRCh37
NC_000005.8:g.134392172del NCBI36
NG_012114.1:g.10693del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*197del MANE Select ENSP00000265340.6:n.*197del
ENST00000265340.11:c.*197del ENSP00000265340.6:n.*197del
ENST00000506438.5:c.*197del ENSP00000427542.1:n.*197del
NM_002653.4:c.*197del NP_002644.4:n.*197del
NM_002653.5:c.*197del MANE Select NP_002644.4:n.*197del
Search 100 bp 5'
Search 100 bp 3'