Canonical Allele Identifier: CA3563608
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 520891
ClinVar RCV Id: RCV001193907 RCV001038060 RCV002483744 RCV004025264
dbSNP Id: rs778545351
ExAC: 5:172659655 C / CGA
gnomAD v2: 5-172659655-C-CGA
gnomAD v4: 5-173232652-C-CGA
MyVariant Identifiers: chr5:g.172659656_172659657dup (hg19) chr5:g.172659655_172659656insGA (hg19) chr5:g.173232653_173232654dup (hg38) chr5:g.173232652_173232653insGA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232653_173232654dup , CM000667.2:g.173232653_173232654dup GRCh38
NC_000005.9:g.172659656_172659657dup , CM000667.1:g.172659656_172659657dup GRCh37
NC_000005.8:g.172592262_172592263dup NCBI36
NG_013340.1:g.7659_7660dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.890_891dup MANE Select ENSP00000327758.4:p.Gly298SerfsTer4
ENST00000329198.4:c.890_891dup ENSP00000327758.4:p.Gly298SerfsTer4
NM_001166175.1:c.*843_*844dup NP_001159647.1:n.*843_*844dup
NM_001166176.1:c.*689_*690dup NP_001159648.1:n.*689_*690dup
NM_004387.3:c.890_891dup NP_004378.1:p.Gly298SerfsTer4
NM_004387.4:c.890_891dup MANE Select NP_004378.1:p.Gly298SerfsTer4
NM_001166175.2:c.*843_*844dup NP_001159647.1:n.*843_*844dup
NM_001166176.2:c.*689_*690dup NP_001159648.1:n.*689_*690dup
Search 100 bp 5'
Search 100 bp 3'