Canonical Allele Identifier: CA650504883
Gene: NKX2-5 HGNC NCBI

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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232508_173232509insA , CM000667.2:g.173232508_173232509insA GRCh38
NC_000005.9:g.172659511_172659512insA , CM000667.1:g.172659511_172659512insA GRCh37
NC_000005.8:g.172592117_172592118insA NCBI36
NG_013340.1:g.7804_7805insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.*60_*61insT MANE Select ENSP00000327758.4:n.*60_*61insT
ENST00000329198.4:c.*60_*61insT ENSP00000327758.4:n.*60_*61insT
NM_001166175.1:c.*988_*989insT NP_001159647.1:n.*988_*989insT
NM_001166176.1:c.*834_*835insT NP_001159648.1:n.*834_*835insT
NM_004387.3:c.*60_*61insT NP_004378.1:n.*60_*61insT
NM_004387.4:c.*60_*61insT MANE Select NP_004378.1:n.*60_*61insT
NM_001166175.2:c.*988_*989insT NP_001159647.1:n.*988_*989insT
NM_001166176.2:c.*834_*835insT NP_001159648.1:n.*834_*835insT
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