Canonical Allele Identifier: CA2697546574

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 2754843
• ClinVar RCV Id: RCV003510006

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232796_173232797dup , CM000667.2:g.173232796_173232797dup	GRCh38
NC_000005.9:g.172659799_172659800dup , CM000667.1:g.172659799_172659800dup	GRCh37
NC_000005.8:g.172592405_172592406dup	NCBI36
NG_013340.1:g.7516_7517dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.747_748dup MANE Select	ENSP00000327758.4:p.Tyr250PhefsTer?
ENST00000329198.4:c.747_748dup	ENSP00000327758.4:p.Tyr250PhefsTer?
NM_001166175.1:c.*700_*701dup	NP_001159647.1:n.*700_*701dup
NM_001166176.1:c.*546_*547dup	NP_001159648.1:n.*546_*547dup
NM_004387.3:c.747_748dup	NP_004378.1:p.Tyr250PhefsTer?
NM_004387.4:c.747_748dup MANE Select	NP_004378.1:p.Tyr250PhefsTer?
NM_001166175.2:c.*700_*701dup	NP_001159647.1:n.*700_*701dup
NM_001166176.2:c.*546_*547dup	NP_001159648.1:n.*546_*547dup