Canonical Allele Identifier: CA209712
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 211670
ClinVar RCV Id: RCV000195107 RCV000484660
dbSNP Id: rs797045790
MyVariant Identifiers: chr5:g.172660067_172660069delinsAACGGTAC (hg19) chr5:g.173233064_173233066delinsAACGGTAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173233064_173233066delinsAACGGTAC , CM000667.2:g.173233064_173233066delinsAACGGTAC GRCh38
NC_000005.9:g.172660067_172660069delinsAACGGTAC , CM000667.1:g.172660067_172660069delinsAACGGTAC GRCh37
NC_000005.8:g.172592673_172592675delinsAACGGTAC NCBI36
NG_013340.1:g.7247_7249delinsGTACCGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.478_480delinsGTACCGTT MANE Select ENSP00000327758.4:p.Gln160ValfsTer18
ENST00000329198.4:c.478_480delinsGTACCGTT ENSP00000327758.4:p.Gln160ValfsTer18
ENST00000424406.2:c.*431_*433delinsGTACCGTT ENSP00000395378.2:n.*431_*433delinsGTACCGTT
ENST00000521848.1:c.*277_*279delinsGTACCGTT ENSP00000427906.1:n.*277_*279delinsGTACCGTT
NM_001166175.1:c.*431_*433delinsGTACCGTT NP_001159647.1:n.*431_*433delinsGTACCGTT
NM_001166176.1:c.*277_*279delinsGTACCGTT NP_001159648.1:n.*277_*279delinsGTACCGTT
NM_004387.3:c.478_480delinsGTACCGTT NP_004378.1:p.Gln160ValfsTer18
NM_004387.4:c.478_480delinsGTACCGTT MANE Select NP_004378.1:p.Gln160ValfsTer18
NM_001166175.2:c.*431_*433delinsGTACCGTT NP_001159647.1:n.*431_*433delinsGTACCGTT
NM_001166176.2:c.*277_*279delinsGTACCGTT NP_001159648.1:n.*277_*279delinsGTACCGTT
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