Canonical Allele Identifier: CA923726130
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1805774
ClinVar RCV Id: RCV002472192
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173233058del , CM000667.2:g.173233058del GRCh38
NC_000005.9:g.172660061del , CM000667.1:g.172660061del GRCh37
NC_000005.8:g.172592667del NCBI36
NG_013340.1:g.7256del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.487del MANE Select ENSP00000327758.4:p.Leu163CysfsTer13
ENST00000329198.4:c.487del ENSP00000327758.4:p.Leu163CysfsTer13
ENST00000424406.2:c.*440del ENSP00000395378.2:n.*440del
ENST00000521848.1:c.*286del ENSP00000427906.1:n.*286del
NM_001166175.1:c.*440del NP_001159647.1:n.*440del
NM_001166176.1:c.*286del NP_001159648.1:n.*286del
NM_004387.3:c.487del NP_004378.1:p.Leu163CysfsTer13
NM_004387.4:c.487del MANE Select NP_004378.1:p.Leu163CysfsTer13
NM_001166175.2:c.*440del NP_001159647.1:n.*440del
NM_001166176.2:c.*286del NP_001159648.1:n.*286del
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