Canonical Allele Identifier: CA2695219270

Gene: NKX2-1 SFTA3

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36517598_36517599del , CM000676.2:g.36517598_36517599del	GRCh38
NC_000014.8:g.36986803_36986804del , CM000676.1:g.36986803_36986804del	GRCh37
NC_000014.7:g.36056554_36056555del	NCBI36
NG_013365.1:g.7628_7629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522719.4:c.796_797del (NKX2-1)	ENSP00000429519.4:p.Asp266ArgfsTer?
ENST00000354822.7:c.886_887del (NKX2-1) MANE Select	ENSP00000346879.6:p.Asp296ArgfsTer?
ENST00000521945.1:n.54+1870_54+1871del
ENST00000522719.3:c.*923_*924del (NKX2-1)	ENSP00000429519.3:n.*923_*924del
ENST00000546983.2:c.373+1387_373+1388del	ENSP00000449302.2:n.373+1387_373+1388del
ENST00000354822.6:c.886_887del (NKX2-1)	ENSP00000346879.5:p.Asp296ArgfsTer?
ENST00000498187.6:c.796_797del (NKX2-1)	ENSP00000429607.2:p.Asp266ArgfsTer?
ENST00000518149.5:c.796_797del (NKX2-1)	ENSP00000428341.1:p.Asp266ArgfsTer?
ENST00000522719.2:c.796_797del (NKX2-1)	ENSP00000429519.2:p.Asp266ArgfsTer?
NM_001079668.2:c.886_887del (NKX2-1)	NP_001073136.1:p.Asp296ArgfsTer?
NM_003317.3:c.796_797del (NKX2-1)	NP_003308.1:p.Asp266ArgfsTer?
NM_001352986.1:c.-283+1870_-283+1871del (SFTA3)	NP_001339915.1:n.-283+1870_-283+1871del
NM_001352987.1:c.-237+1870_-237+1871del (SFTA3)	NP_001339916.1:n.-237+1870_-237+1871del
NM_001079668.3:c.886_887del (NKX2-1) MANE Select	NP_001073136.1:p.Asp296ArgfsTer?
NM_003317.4:c.796_797del (NKX2-1)	NP_003308.1:p.Asp266ArgfsTer?
NR_161364.1:n.89+1870_89+1871del (SFTA3)
NR_161365.1:n.89+1870_89+1871del (SFTA3)