Canonical Allele Identifier: CA1139659258

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 945426
• ClinVar RCV Id: RCV001216063
• dbSNP Id: rs1761438700

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173234924_173234925insGGGCCAGC , CM000667.2:g.173234924_173234925insGGGCCAGC	GRCh38
NC_000005.9:g.172661927_172661928insGGGCCAGC , CM000667.1:g.172661927_172661928insGGGCCAGC	GRCh37
NC_000005.8:g.172594533_172594534insGGGCCAGC	NCBI36
NG_013340.1:g.5389_5390insCTGGCCCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000329198.5:c.160_161insCTGGCCCG MANE Select	ENSP00000327758.4:p.Glu54AlafsTer?
ENST00000329198.4:c.160_161insCTGGCCCG	ENSP00000327758.4:p.Glu54AlafsTer?
ENST00000424406.2:c.160_161insCTGGCCCG	ENSP00000395378.2:p.Glu54AlafsTer?
ENST00000517440.1:c.160_161insCTGGCCCG	ENSP00000429905.1:p.Glu54AlafsTer?
ENST00000521848.1:c.160_161insCTGGCCCG	ENSP00000427906.1:p.Glu54AlafsTer?
NM_001166175.1:c.160_161insCTGGCCCG	NP_001159647.1:p.Glu54AlafsTer?
NM_001166176.1:c.160_161insCTGGCCCG	NP_001159648.1:p.Glu54AlafsTer?
NM_004387.3:c.160_161insCTGGCCCG	NP_004378.1:p.Glu54AlafsTer?
XM_017009071.2:c.160_161insCTGGCCCG	XP_016864560.1:p.Glu54AlafsTer?
NM_004387.4:c.160_161insCTGGCCCG MANE Select	NP_004378.1:p.Glu54AlafsTer?
NM_001166175.2:c.160_161insCTGGCCCG	NP_001159647.1:p.Glu54AlafsTer?
NM_001166176.2:c.160_161insCTGGCCCG	NP_001159648.1:p.Glu54AlafsTer?