Canonical Allele Identifier: CA2573139447

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 1443937
• ClinVar RCV Id: RCV001981524
• dbSNP Id: rs2113906022

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173234830_173234833dup , CM000667.2:g.173234830_173234833dup	GRCh38
NC_000005.9:g.172661833_172661836dup , CM000667.1:g.172661833_172661836dup	GRCh37
NC_000005.8:g.172594439_172594442dup	NCBI36
NG_013340.1:g.5482_5485dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000329198.5:c.253_256dup MANE Select	ENSP00000327758.4:p.Phe86CysfsTer23
ENST00000329198.4:c.253_256dup	ENSP00000327758.4:p.Phe86CysfsTer23
ENST00000424406.2:c.253_256dup	ENSP00000395378.2:p.Phe86CysfsTer23
ENST00000517440.1:c.253_256dup	ENSP00000429905.1:p.Phe86CysfsTer23
ENST00000521848.1:c.253_256dup	ENSP00000427906.1:p.Phe86CysfsTer23
NM_001166175.1:c.253_256dup	NP_001159647.1:p.Phe86CysfsTer23
NM_001166176.1:c.253_256dup	NP_001159648.1:p.Phe86CysfsTer23
NM_004387.3:c.253_256dup	NP_004378.1:p.Phe86CysfsTer23
XM_017009071.2:c.253_256dup	XP_016864560.1:p.Phe86CysfsTer23
NM_004387.4:c.253_256dup MANE Select	NP_004378.1:p.Phe86CysfsTer23
NM_001166175.2:c.253_256dup	NP_001159647.1:p.Phe86CysfsTer23
NM_001166176.2:c.253_256dup	NP_001159648.1:p.Phe86CysfsTer23