Canonical Allele Identifier: CA2695219283

Gene: NKX2-1 SFTA3

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36517809_36517810insCC , CM000676.2:g.36517809_36517810insCC	GRCh38
NC_000014.8:g.36987014_36987015insCC , CM000676.1:g.36987014_36987015insCC	GRCh37
NC_000014.7:g.36056765_36056766insCC	NCBI36
NG_013365.1:g.7416_7417insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522719.4:c.584_585insGG (NKX2-1)	ENSP00000429519.4:p.Ser196AlafsTer3
ENST00000354822.7:c.674_675insGG (NKX2-1) MANE Select	ENSP00000346879.6:p.Ser226AlafsTer3
ENST00000521945.1:n.54+1658_54+1659insGG
ENST00000522719.3:c.*711_*712insGG (NKX2-1)	ENSP00000429519.3:n.*711_*712insGG
ENST00000546983.2:c.373+1175_373+1176insGG	ENSP00000449302.2:n.373+1175_373+1176insGG
ENST00000354822.6:c.674_675insGG (NKX2-1)	ENSP00000346879.5:p.Ser226AlafsTer3
ENST00000498187.6:c.584_585insGG (NKX2-1)	ENSP00000429607.2:p.Ser196AlafsTer3
ENST00000518149.5:c.584_585insGG (NKX2-1)	ENSP00000428341.1:p.Ser196AlafsTer3
ENST00000522719.2:c.584_585insGG (NKX2-1)	ENSP00000429519.2:p.Ser196AlafsTer3
NM_001079668.2:c.674_675insGG (NKX2-1)	NP_001073136.1:p.Ser226AlafsTer3
NM_003317.3:c.584_585insGG (NKX2-1)	NP_003308.1:p.Ser196AlafsTer3
NM_001352986.1:c.-283+1658_-283+1659insGG (SFTA3)	NP_001339915.1:n.-283+1658_-283+1659insGG
NM_001352987.1:c.-237+1658_-237+1659insGG (SFTA3)	NP_001339916.1:n.-237+1658_-237+1659insGG
NM_001079668.3:c.674_675insGG (NKX2-1) MANE Select	NP_001073136.1:p.Ser226AlafsTer3
NM_003317.4:c.584_585insGG (NKX2-1)	NP_003308.1:p.Ser196AlafsTer3
NR_161364.1:n.89+1658_89+1659insGG (SFTA3)
NR_161365.1:n.89+1658_89+1659insGG (SFTA3)