Canonical Allele Identifier: CA2697546581

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 2690912
• ClinVar RCV Id: RCV003486385

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173233051_173233053del , CM000667.2:g.173233051_173233053del	GRCh38
NC_000005.9:g.172660054_172660056del , CM000667.1:g.172660054_172660056del	GRCh37
NC_000005.8:g.172592660_172592662del	NCBI36
NG_013340.1:g.7261_7263del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.492_494del MANE Select	ENSP00000327758.4:p.Ala165del
ENST00000329198.4:c.492_494del	ENSP00000327758.4:p.Ala165del
ENST00000424406.2:c.*445_*447del	ENSP00000395378.2:n.*445_*447del
ENST00000521848.1:c.*291_*293del	ENSP00000427906.1:n.*291_*293del
NM_001166175.1:c.*445_*447del	NP_001159647.1:n.*445_*447del
NM_001166176.1:c.*291_*293del	NP_001159648.1:n.*291_*293del
NM_004387.3:c.492_494del	NP_004378.1:p.Ala165del
NM_004387.4:c.492_494del MANE Select	NP_004378.1:p.Ala165del
NM_001166175.2:c.*445_*447del	NP_001159647.1:n.*445_*447del
NM_001166176.2:c.*291_*293del	NP_001159648.1:n.*291_*293del