Canonical Allele Identifier: CA3563672
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 410968
ClinVar RCV Id: RCV000462970 RCV000617268 RCV000786394
dbSNP Id: rs746833511
ExAC: 5:172659905 A / AGGC
gnomAD v2: 5-172659905-A-AGGC
gnomAD v3: 5-173232902-A-AGGC
gnomAD v4: 5-173232902-A-AGGC
MyVariant Identifiers: chr5:g.172659906_172659908dupGGC (hg19) chr5:g.172659911_172659912insGGC (hg19) chr5:g.172659908_172659909insGGC (hg19) chr5:g.172659905_172659906insGGC (hg19) chr5:g.173232903_173232905dupGGC (hg38) chr5:g.173232908_173232909insGGC (hg38) chr5:g.173232905_173232906insGGC (hg38) chr5:g.173232902_173232903insGGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232917_173232919dup , CM000667.2:g.173232917_173232919dup GRCh38
NC_000005.9:g.172659920_172659922dup , CM000667.1:g.172659920_172659922dup GRCh37
NC_000005.8:g.172592526_172592528dup NCBI36
NG_013340.1:g.7408_7410dup

Transcript Alleles

HGVS Amino-acid change
ENST00000329198.5:c.639_641dup MANE Select ENSP00000327758.4:p.Pro214_Ala215insPro
ENST00000329198.4:c.639_641dup ENSP00000327758.4:p.Pro214_Ala215insPro
ENST00000424406.2:c.*592_*594dup ENSP00000395378.2:n.*592_*594dup
ENST00000521848.1:c.*438_*440dup ENSP00000427906.1:n.*438_*440dup
NM_001166175.1:c.*592_*594dup NP_001159647.1:n.*592_*594dup
NM_001166176.1:c.*438_*440dup NP_001159648.1:n.*438_*440dup
NM_004387.3:c.639_641dup NP_004378.1:p.Pro214_Ala215insPro
NM_004387.4:c.639_641dup MANE Select NP_004378.1:p.Pro214_Ala215insPro
NM_001166175.2:c.*592_*594dup NP_001159647.1:n.*592_*594dup
NM_001166176.2:c.*438_*440dup NP_001159648.1:n.*438_*440dup
Search 100 bp 5'
Search 100 bp 3'