Canonical Allele Identifier: CA2675354261
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135031778-G-GCTC
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031779_135031781dup , CM000667.2:g.135031779_135031781dup GRCh38
NC_000005.9:g.134367469_134367471dup , CM000667.1:g.134367469_134367471dup GRCh37
NC_000005.8:g.134395368_134395370dup NCBI36
NG_012114.1:g.7494_7496dup

Transcript Alleles

HGVS Amino-acid change
ENST00000265340.12:c.170-273_170-271dup MANE Select ENSP00000265340.6:n.170-273_170-271dup
ENST00000265340.11:c.170-273_170-271dup ENSP00000265340.6:n.170-273_170-271dup
ENST00000502676.1:c.170-273_170-271dup ENSP00000423624.1:n.170-273_170-271dup
ENST00000503586.1:c.292-273_292-271dup
ENST00000504936.1:n.230_232dup
ENST00000506438.5:c.170-273_170-271dup ENSP00000427542.1:n.170-273_170-271dup
ENST00000507253.5:c.170-273_170-271dup ENSP00000422908.1:n.170-273_170-271dup
NM_002653.4:c.170-273_170-271dup NP_002644.4:n.170-273_170-271dup
NM_002653.5:c.170-273_170-271dup MANE Select NP_002644.4:n.170-273_170-271dup
Search 100 bp 5'
Search 100 bp 3'