Canonical Allele Identifier: CA2578487409
Gene: NKX2-5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232674del , CM000667.2:g.173232674del GRCh38
NC_000005.9:g.172659677del , CM000667.1:g.172659677del GRCh37
NC_000005.8:g.172592283del NCBI36
NG_013340.1:g.7639del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.870del MANE Select ENSP00000327758.4:p.Asn290LysfsTer4
ENST00000329198.4:c.870del ENSP00000327758.4:p.Asn290LysfsTer4
NM_001166175.1:c.*823del NP_001159647.1:n.*823del
NM_001166176.1:c.*669del NP_001159648.1:n.*669del
NM_004387.3:c.870del NP_004378.1:p.Asn290LysfsTer4
NM_004387.4:c.870del MANE Select NP_004378.1:p.Asn290LysfsTer4
NM_001166175.2:c.*823del NP_001159647.1:n.*823del
NM_001166176.2:c.*669del NP_001159648.1:n.*669del
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