Canonical Allele Identifier: CA2580074044
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2100659
ClinVar RCV Id: RCV003025938
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232846_173232853del , CM000667.2:g.173232846_173232853del GRCh38
NC_000005.9:g.172659849_172659856del , CM000667.1:g.172659849_172659856del GRCh37
NC_000005.8:g.172592455_172592462del NCBI36
NG_013340.1:g.7462_7469del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.693_700del MANE Select ENSP00000327758.4:p.Asp233AlafsTer16
ENST00000329198.4:c.693_700del ENSP00000327758.4:p.Asp233AlafsTer16
NM_001166175.1:c.*646_*653del NP_001159647.1:n.*646_*653del
NM_001166176.1:c.*492_*499del NP_001159648.1:n.*492_*499del
NM_004387.3:c.693_700del NP_004378.1:p.Asp233AlafsTer16
NM_004387.4:c.693_700del MANE Select NP_004378.1:p.Asp233AlafsTer16
NM_001166175.2:c.*646_*653del NP_001159647.1:n.*646_*653del
NM_001166176.2:c.*492_*499del NP_001159648.1:n.*492_*499del
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