Canonical Allele Identifier: CA1081831452
Gene: PITX1 HGNC NCBI

Linked Data

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

HGVS Genome Assembly
NC_000005.10:g.135028581_135028582insTTTG , CM000667.2:g.135028581_135028582insTTTG GRCh38
NC_000005.9:g.134364271_134364272insTTTG , CM000667.1:g.134364271_134364272insTTTG GRCh37
NC_000005.8:g.134392170_134392171insTTTG NCBI36
NG_012114.1:g.10693_10694insCAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*197_*198insCAAA MANE Select ENSP00000265340.6:n.*197_*198insCAAA
ENST00000265340.11:c.*197_*198insCAAA ENSP00000265340.6:n.*197_*198insCAAA
ENST00000506438.5:c.*197_*198insCAAA ENSP00000427542.1:n.*197_*198insCAAA
NM_002653.4:c.*197_*198insCAAA NP_002644.4:n.*197_*198insCAAA
NM_002653.5:c.*197_*198insCAAA MANE Select NP_002644.4:n.*197_*198insCAAA
Search 100 bp 5'
Search 100 bp 3'