Canonical Allele Identifier: CA2499217775
Gene: NKX2-5 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232945_173232946del , CM000667.2:g.173232945_173232946del GRCh38
NC_000005.9:g.172659948_172659949del , CM000667.1:g.172659948_172659949del GRCh37
NC_000005.8:g.172592554_172592555del NCBI36
NG_013340.1:g.7367_7368del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.598_599del MANE Select ENSP00000327758.4:p.Gln200AspfsTer?
ENST00000329198.4:c.598_599del ENSP00000327758.4:p.Gln200AspfsTer?
ENST00000424406.2:c.*551_*552del ENSP00000395378.2:n.*551_*552del
ENST00000521848.1:c.*397_*398del ENSP00000427906.1:n.*397_*398del
NM_001166175.1:c.*551_*552del NP_001159647.1:n.*551_*552del
NM_001166176.1:c.*397_*398del NP_001159648.1:n.*397_*398del
NM_004387.3:c.598_599del NP_004378.1:p.Gln200AspfsTer?
NM_004387.4:c.598_599del MANE Select NP_004378.1:p.Gln200AspfsTer?
NM_001166175.2:c.*551_*552del NP_001159647.1:n.*551_*552del
NM_001166176.2:c.*397_*398del NP_001159648.1:n.*397_*398del
Search 100 bp 5'
Search 100 bp 3'