Canonical Allele Identifier: CA2499217780

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 1299661
• ClinVar RCV Id: RCV001730133
• dbSNP Id: rs2113906009

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173234825del , CM000667.2:g.173234825del	GRCh38
NC_000005.9:g.172661828del , CM000667.1:g.172661828del	GRCh37
NC_000005.8:g.172594434del	NCBI36
NG_013340.1:g.5490del

Transcript Alleles

HGVS	Amino-acid change
ENST00000329198.5:c.261del MANE Select	ENSP00000327758.4:p.Ala88ProfsTer?
ENST00000329198.4:c.261del	ENSP00000327758.4:p.Ala88ProfsTer?
ENST00000424406.2:c.261del	ENSP00000395378.2:p.Ala88ProfsTer?
ENST00000517440.1:c.261del	ENSP00000429905.1:p.Ala88ProfsTer?
ENST00000521848.1:c.261del	ENSP00000427906.1:p.Ala88ProfsTer?
NM_001166175.1:c.261del	NP_001159647.1:p.Ala88ProfsTer?
NM_001166176.1:c.261del	NP_001159648.1:p.Ala88ProfsTer?
NM_004387.3:c.261del	NP_004378.1:p.Ala88ProfsTer?
XM_017009071.2:c.261del	XP_016864560.1:p.Ala88ProfsTer?
NM_004387.4:c.261del MANE Select	NP_004378.1:p.Ala88ProfsTer?
NM_001166175.2:c.261del	NP_001159647.1:p.Ala88ProfsTer?
NM_001166176.2:c.261del	NP_001159648.1:p.Ala88ProfsTer?