Canonical Allele Identifier: CA2580088219

Gene: NKX2-1 SFTA3

Linked Data

• ClinVar Variation Id: 2444325
• ClinVar RCV Id: RCV003153123

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36517949del , CM000676.2:g.36517949del	GRCh38
NC_000014.8:g.36987154del , CM000676.1:g.36987154del	GRCh37
NC_000014.7:g.36056905del	NCBI36
NG_013365.1:g.7277del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522719.4:c.445del (NKX2-1)	ENSP00000429519.4:p.Val149Ter
ENST00000354822.7:c.535del (NKX2-1) MANE Select	ENSP00000346879.6:p.Val179Ter
ENST00000521945.1:n.54+1519del
ENST00000522719.3:c.*572del (NKX2-1)	ENSP00000429519.3:n.*572del
ENST00000546983.2:c.373+1036del	ENSP00000449302.2:n.373+1036del
ENST00000354822.6:c.535del (NKX2-1)	ENSP00000346879.5:p.Val179Ter
ENST00000498187.6:c.445del (NKX2-1)	ENSP00000429607.2:p.Val149Ter
ENST00000518149.5:c.445del (NKX2-1)	ENSP00000428341.1:p.Val149Ter
ENST00000522719.2:c.445del (NKX2-1)	ENSP00000429519.2:p.Val149Ter
NM_001079668.2:c.535del (NKX2-1)	NP_001073136.1:p.Val179Ter
NM_003317.3:c.445del (NKX2-1)	NP_003308.1:p.Val149Ter
NM_001352986.1:c.-283+1519del (SFTA3)	NP_001339915.1:n.-283+1519del
NM_001352987.1:c.-237+1519del (SFTA3)	NP_001339916.1:n.-237+1519del
NM_001079668.3:c.535del (NKX2-1) MANE Select	NP_001073136.1:p.Val179Ter
NM_003317.4:c.445del (NKX2-1)	NP_003308.1:p.Val149Ter
NR_161364.1:n.89+1519del (SFTA3)
NR_161365.1:n.89+1519del (SFTA3)