Canonical Allele Identifier: CA2675353459
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135028580-T-TTTG
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028581_135028582insTGT , CM000667.2:g.135028581_135028582insTGT GRCh38
NC_000005.9:g.134364271_134364272insTGT , CM000667.1:g.134364271_134364272insTGT GRCh37
NC_000005.8:g.134392170_134392171insTGT NCBI36
NG_012114.1:g.10694_10695insCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*198_*199insCAA MANE Select ENSP00000265340.6:n.*198_*199insCAA
ENST00000265340.11:c.*198_*199insCAA ENSP00000265340.6:n.*198_*199insCAA
ENST00000506438.5:c.*198_*199insCAA ENSP00000427542.1:n.*198_*199insCAA
NM_002653.4:c.*198_*199insCAA NP_002644.4:n.*198_*199insCAA
NM_002653.5:c.*198_*199insCAA MANE Select NP_002644.4:n.*198_*199insCAA
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