Canonical Allele Identifier: CA2624596121

Gene: NKX2-1 SFTA3

Linked Data

• gnomAD v4: 14-36517554-G-GGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36517556_36517557insTGC , CM000676.2:g.36517556_36517557insTGC	GRCh38
NC_000014.8:g.36986761_36986762insTGC , CM000676.1:g.36986761_36986762insTGC	GRCh37
NC_000014.7:g.36056512_36056513insTGC	NCBI36
NG_013365.1:g.7671_7672insAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522719.4:c.839_840insAGC (NKX2-1)	ENSP00000429519.4:p.Ala280_Ser281insAla
ENST00000354822.7:c.929_930insAGC (NKX2-1) MANE Select	ENSP00000346879.6:p.Ala310_Ser311insAla
ENST00000521945.1:n.54+1913_54+1914insAGC
ENST00000522719.3:c.*966_*967insAGC (NKX2-1)	ENSP00000429519.3:n.*966_*967insAGC
ENST00000546983.2:c.373+1430_373+1431insAGC	ENSP00000449302.2:n.373+1430_373+1431insAGC
ENST00000354822.6:c.929_930insAGC (NKX2-1)	ENSP00000346879.5:p.Ala310_Ser311insAla
ENST00000498187.6:c.839_840insAGC (NKX2-1)	ENSP00000429607.2:p.Ala280_Ser281insAla
ENST00000518149.5:c.839_840insAGC (NKX2-1)	ENSP00000428341.1:p.Ala280_Ser281insAla
ENST00000522719.2:c.839_840insAGC (NKX2-1)	ENSP00000429519.2:p.Ala280_Ser281insAla
NM_001079668.2:c.929_930insAGC (NKX2-1)	NP_001073136.1:p.Ala310_Ser311insAla
NM_003317.3:c.839_840insAGC (NKX2-1)	NP_003308.1:p.Ala280_Ser281insAla
NM_001352986.1:c.-283+1913_-283+1914insAGC (SFTA3)	NP_001339915.1:n.-283+1913_-283+1914insAGC
NM_001352987.1:c.-237+1913_-237+1914insAGC (SFTA3)	NP_001339916.1:n.-237+1913_-237+1914insAGC
NM_001079668.3:c.929_930insAGC (NKX2-1) MANE Select	NP_001073136.1:p.Ala310_Ser311insAla
NM_003317.4:c.839_840insAGC (NKX2-1)	NP_003308.1:p.Ala280_Ser281insAla
NR_161364.1:n.89+1913_89+1914insAGC (SFTA3)
NR_161365.1:n.89+1913_89+1914insAGC (SFTA3)