Canonical Allele Identifier: CA1601615692
Gene: NKX2-5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232591_173232592delinsAG , CM000667.2:g.173232591_173232592delinsAG GRCh38
NC_000005.9:g.172659594_172659595delinsAG , CM000667.1:g.172659594_172659595delinsAG GRCh37
NC_000005.8:g.172592200_172592201delinsAG NCBI36
NG_013340.1:g.7721_7722delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.952_953delinsCT MANE Select ENSP00000327758.4:p.Leu318=
ENST00000329198.4:c.952_953delinsCT ENSP00000327758.4:p.Leu318=
NM_001166175.1:c.*905_*906delinsCT NP_001159647.1:n.*905_*906delinsCT
NM_001166176.1:c.*751_*752delinsCT NP_001159648.1:n.*751_*752delinsCT
NM_004387.3:c.952_953delinsCT NP_004378.1:p.Leu318=
NM_004387.4:c.952_953delinsCT MANE Select NP_004378.1:p.Leu318=
NM_001166175.2:c.*905_*906delinsCT NP_001159647.1:n.*905_*906delinsCT
NM_001166176.2:c.*751_*752delinsCT NP_001159648.1:n.*751_*752delinsCT
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