Canonical Allele Identifier: CA1601615973
Gene: NKX2-5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173233071_173233073delinsTTG , CM000667.2:g.173233071_173233073delinsTTG GRCh38
NC_000005.9:g.172660074_172660076delinsTTG , CM000667.1:g.172660074_172660076delinsTTG GRCh37
NC_000005.8:g.172592680_172592682delinsTTG NCBI36
NG_013340.1:g.7240_7242delinsCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.471_473delinsCAA MANE Select ENSP00000327758.4:p.Phe157=
ENST00000329198.4:c.471_473delinsCAA ENSP00000327758.4:p.Phe157=
ENST00000424406.2:c.*424_*426delinsCAA ENSP00000395378.2:n.*424_*426delinsCAA
ENST00000521848.1:c.*270_*272delinsCAA ENSP00000427906.1:n.*270_*272delinsCAA
NM_001166175.1:c.*424_*426delinsCAA NP_001159647.1:n.*424_*426delinsCAA
NM_001166176.1:c.*270_*272delinsCAA NP_001159648.1:n.*270_*272delinsCAA
NM_004387.3:c.471_473delinsCAA NP_004378.1:p.Phe157=
NM_004387.4:c.471_473delinsCAA MANE Select NP_004378.1:p.Phe157=
NM_001166175.2:c.*424_*426delinsCAA NP_001159647.1:n.*424_*426delinsCAA
NM_001166176.2:c.*270_*272delinsCAA NP_001159648.1:n.*270_*272delinsCAA
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