Canonical Allele Identifier: CA2582341657

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 2586642
• ClinVar RCV Id: RCV003358387

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173234925_173234972dup , CM000667.2:g.173234925_173234972dup	GRCh38
NC_000005.9:g.172661928_172661975dup , CM000667.1:g.172661928_172661975dup	GRCh37
NC_000005.8:g.172594534_172594581dup	NCBI36
NG_013340.1:g.5346_5393dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.117_164dup MANE Select	ENSP00000327758.4:p.Ala55_Tyr56insThrLeuAlaProSerSerCysMetLeu...
ENST00000329198.4:c.117_164dup	ENSP00000327758.4:p.Ala55_Tyr56insThrLeuAlaProSerSerCysMetLeu...
ENST00000424406.2:c.117_164dup	ENSP00000395378.2:p.Ala55_Tyr56insThrLeuAlaProSerSerCysMetLeu...
ENST00000517440.1:c.117_164dup	ENSP00000429905.1:p.Ala55_Tyr56insThrLeuAlaProSerSerCysMetLeu...
ENST00000521848.1:c.117_164dup	ENSP00000427906.1:p.Ala55_Tyr56insThrLeuAlaProSerSerCysMetLeu...
NM_001166175.1:c.117_164dup	NP_001159647.1:p.Ala55_Tyr56insThrLeuAlaProSerSerCysMetLeuAla...
NM_001166176.1:c.117_164dup	NP_001159648.1:p.Ala55_Tyr56insThrLeuAlaProSerSerCysMetLeuAla...
NM_004387.3:c.117_164dup	NP_004378.1:p.Ala55_Tyr56insThrLeuAlaProSerSerCysMetLeuAlaAla...
XM_017009071.2:c.117_164dup	XP_016864560.1:p.Ala55_Tyr56insThrLeuAlaProSerSerCysMetLeuAla...
NM_004387.4:c.117_164dup MANE Select	NP_004378.1:p.Ala55_Tyr56insThrLeuAlaProSerSerCysMetLeuAlaAla...
NM_001166175.2:c.117_164dup	NP_001159647.1:p.Ala55_Tyr56insThrLeuAlaProSerSerCysMetLeuAla...
NM_001166176.2:c.117_164dup	NP_001159648.1:p.Ala55_Tyr56insThrLeuAlaProSerSerCysMetLeuAla...