Canonical Allele Identifier: CA891842716

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 570031
• ClinVar RCV Id: RCV000690794
• dbSNP Id: rs1561621507

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173234921_173234937delinsAGGAGGC , CM000667.2:g.173234921_173234937delinsAGGAGGC	GRCh38
NC_000005.9:g.172661924_172661940delinsAGGAGGC , CM000667.1:g.172661924_172661940delinsAGGAGGC	GRCh37
NC_000005.8:g.172594530_172594546delinsAGGAGGC	NCBI36
NG_013340.1:g.5376_5392delinsGCCTCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000329198.5:c.147_163delinsGCCTCCT MANE Select	ENSP00000327758.4:p.Ala50ProfsTer?
ENST00000329198.4:c.147_163delinsGCCTCCT	ENSP00000327758.4:p.Ala50ProfsTer?
ENST00000424406.2:c.147_163delinsGCCTCCT	ENSP00000395378.2:p.Ala50ProfsTer?
ENST00000517440.1:c.147_163delinsGCCTCCT	ENSP00000429905.1:p.Ala50ProfsTer?
ENST00000521848.1:c.147_163delinsGCCTCCT	ENSP00000427906.1:p.Ala50ProfsTer?
NM_001166175.1:c.147_163delinsGCCTCCT	NP_001159647.1:p.Ala50ProfsTer?
NM_001166176.1:c.147_163delinsGCCTCCT	NP_001159648.1:p.Ala50ProfsTer?
NM_004387.3:c.147_163delinsGCCTCCT	NP_004378.1:p.Ala50ProfsTer?
XM_017009071.2:c.147_163delinsGCCTCCT	XP_016864560.1:p.Ala50ProfsTer?
NM_004387.4:c.147_163delinsGCCTCCT MANE Select	NP_004378.1:p.Ala50ProfsTer?
NM_001166175.2:c.147_163delinsGCCTCCT	NP_001159647.1:p.Ala50ProfsTer?
NM_001166176.2:c.147_163delinsGCCTCCT	NP_001159648.1:p.Ala50ProfsTer?