Canonical Allele Identifier: CA915942751

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 817305
• ClinVar RCV Id: RCV001008425
• dbSNP Id: rs1581108437

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232984_173232988del , CM000667.2:g.173232984_173232988del	GRCh38
NC_000005.9:g.172659987_172659991del , CM000667.1:g.172659987_172659991del	GRCh37
NC_000005.8:g.172592593_172592597del	NCBI36
NG_013340.1:g.7325_7329del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.556_560del MANE Select	ENSP00000327758.4:p.Phe186GlufsTer?
ENST00000329198.4:c.556_560del	ENSP00000327758.4:p.Phe186GlufsTer?
ENST00000424406.2:c.*509_*513del	ENSP00000395378.2:n.*509_*513del
ENST00000521848.1:c.*355_*359del	ENSP00000427906.1:n.*355_*359del
NM_001166175.1:c.*509_*513del	NP_001159647.1:n.*509_*513del
NM_001166176.1:c.*355_*359del	NP_001159648.1:n.*355_*359del
NM_004387.3:c.556_560del	NP_004378.1:p.Phe186GlufsTer?
NM_004387.4:c.556_560del MANE Select	NP_004378.1:p.Phe186GlufsTer?
NM_001166175.2:c.*509_*513del	NP_001159647.1:n.*509_*513del
NM_001166176.2:c.*355_*359del	NP_001159648.1:n.*355_*359del