Canonical Allele Identifier: CA2675353473
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135028593-T-TTTG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028593_135028594insTTG , CM000667.2:g.135028593_135028594insTTG GRCh38
NC_000005.9:g.134364283_134364284insTTG , CM000667.1:g.134364283_134364284insTTG GRCh37
NC_000005.8:g.134392182_134392183insTTG NCBI36
NG_012114.1:g.10681_10682insCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*185_*186insCAA MANE Select ENSP00000265340.6:n.*185_*186insCAA
ENST00000265340.11:c.*185_*186insCAA ENSP00000265340.6:n.*185_*186insCAA
ENST00000506438.5:c.*185_*186insCAA ENSP00000427542.1:n.*185_*186insCAA
NM_002653.4:c.*185_*186insCAA NP_002644.4:n.*185_*186insCAA
NM_002653.5:c.*185_*186insCAA MANE Select NP_002644.4:n.*185_*186insCAA
Search 100 bp 5'
Search 100 bp 3'