Canonical Allele Identifier: CA2129438058

Gene: NKX2-1 SFTA3

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36517658_36517666delinsGCGGGCACC , CM000676.2:g.36517658_36517666delinsGCGGGCACC	GRCh38
NC_000014.8:g.36986863_36986871delinsGCGGGCACC , CM000676.1:g.36986863_36986871delinsGCGGGCACC	GRCh37
NC_000014.7:g.36056614_36056622delinsGCGGGCACC	NCBI36
NG_013365.1:g.7560_7568delinsGGTGCCCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522719.4:c.728_736delinsGGTGCCCGC (NKX2-1)	ENSP00000429519.4:p.Gly243=
ENST00000354822.7:c.818_826delinsGGTGCCCGC (NKX2-1) MANE Select	ENSP00000346879.6:p.Gly273=
ENST00000521945.1:n.54+1802_54+1810delinsGGTGCCCGC
ENST00000522719.3:c.*855_*863delinsGGTGCCCGC (NKX2-1)	ENSP00000429519.3:n.*855_*863delinsGGTGCCCGC
ENST00000546983.2:c.373+1319_373+1327delinsGGTGCCCGC	ENSP00000449302.2:n.373+1319_373+1327delinsGGTGCCCGC
ENST00000354822.6:c.818_826delinsGGTGCCCGC (NKX2-1)	ENSP00000346879.5:p.Gly273=
ENST00000498187.6:c.728_736delinsGGTGCCCGC (NKX2-1)	ENSP00000429607.2:p.Gly243=
ENST00000518149.5:c.728_736delinsGGTGCCCGC (NKX2-1)	ENSP00000428341.1:p.Gly243=
ENST00000522719.2:c.728_736delinsGGTGCCCGC (NKX2-1)	ENSP00000429519.2:p.Gly243=
NM_001079668.2:c.818_826delinsGGTGCCCGC (NKX2-1)	NP_001073136.1:p.Gly273=
NM_003317.3:c.728_736delinsGGTGCCCGC (NKX2-1)	NP_003308.1:p.Gly243=
NM_001352986.1:c.-283+1802_-283+1810delinsGGTGCCCGC (SFTA3)	NP_001339915.1:n.-283+1802_-283+1810delinsGGTGCCCGC
NM_001352987.1:c.-237+1802_-237+1810delinsGGTGCCCGC (SFTA3)	NP_001339916.1:n.-237+1802_-237+1810delinsGGTGCCCGC
NM_001079668.3:c.818_826delinsGGTGCCCGC (NKX2-1) MANE Select	NP_001073136.1:p.Gly273=
NM_003317.4:c.728_736delinsGGTGCCCGC (NKX2-1)	NP_003308.1:p.Gly243=
NR_161364.1:n.89+1802_89+1810delinsGGTGCCCGC (SFTA3)
NR_161365.1:n.89+1802_89+1810delinsGGTGCCCGC (SFTA3)