Canonical Allele Identifier: CA1081832598
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1752438795
gnomAD v3: 5-135031139-TC-T
gnomAD v4: 5-135031139-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031141del , CM000667.2:g.135031141del GRCh38
NC_000005.9:g.134366831del , CM000667.1:g.134366831del GRCh37
NC_000005.8:g.134394730del NCBI36
NG_012114.1:g.8135del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.402+136del MANE Select ENSP00000265340.6:n.402+136del
ENST00000265340.11:c.402+136del ENSP00000265340.6:n.402+136del
ENST00000503586.1:c.524+136del
ENST00000504936.1:n.735+136del
ENST00000506438.5:c.402+136del ENSP00000427542.1:n.402+136del
NM_002653.4:c.402+136del NP_002644.4:n.402+136del
NM_002653.5:c.402+136del MANE Select NP_002644.4:n.402+136del
Search 100 bp 5'
Search 100 bp 3'