Canonical Allele Identifier: CA2695205814
Gene: NKX2-5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232865_173232868del , CM000667.2:g.173232865_173232868del GRCh38
NC_000005.9:g.172659868_172659871del , CM000667.1:g.172659868_172659871del GRCh37
NC_000005.8:g.172592474_172592477del NCBI36
NG_013340.1:g.7446_7449del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.677_680del MANE Select ENSP00000327758.4:p.Asp226AlafsTer5
ENST00000329198.4:c.677_680del ENSP00000327758.4:p.Asp226AlafsTer5
NM_001166175.1:c.*630_*633del NP_001159647.1:n.*630_*633del
NM_001166176.1:c.*476_*479del NP_001159648.1:n.*476_*479del
NM_004387.3:c.677_680del NP_004378.1:p.Asp226AlafsTer5
NM_004387.4:c.677_680del MANE Select NP_004378.1:p.Asp226AlafsTer5
NM_001166175.2:c.*630_*633del NP_001159647.1:n.*630_*633del
NM_001166176.2:c.*476_*479del NP_001159648.1:n.*476_*479del
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