Canonical Allele Identifier: CA212705
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 156160
ClinVar RCV Id: RCV000144178
dbSNP Id: rs587782930
MyVariant Identifiers: chr5:g.172659819_172659826del (hg19) chr5:g.173232816_173232823del (hg38)
PubMed: PMID:25742962
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232816_173232823del , CM000667.2:g.173232816_173232823del GRCh38
NC_000005.9:g.172659819_172659826del , CM000667.1:g.172659819_172659826del GRCh37
NC_000005.8:g.172592425_172592432del NCBI36
NG_013340.1:g.7490_7497del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.721_728del MANE Select ENSP00000327758.4:p.Tyr241GlyfsTer8
ENST00000329198.4:c.721_728del ENSP00000327758.4:p.Tyr241GlyfsTer8
NM_001166175.1:c.*674_*681del NP_001159647.1:n.*674_*681del
NM_001166176.1:c.*520_*527del NP_001159648.1:n.*520_*527del
NM_004387.3:c.721_728del NP_004378.1:p.Tyr241GlyfsTer8
NM_004387.4:c.721_728del MANE Select NP_004378.1:p.Tyr241GlyfsTer8
NM_001166175.2:c.*674_*681del NP_001159647.1:n.*674_*681del
NM_001166176.2:c.*520_*527del NP_001159648.1:n.*520_*527del
Search 100 bp 5'
Search 100 bp 3'