Canonical Allele Identifier: CA2580616588

Gene: NKX2-1 SFTA3

Linked Data

• ClinVar Variation Id: 2506899
• ClinVar RCV Id: RCV003237268

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36517870_36517873delinsA , CM000676.2:g.36517870_36517873delinsA	GRCh38
NC_000014.8:g.36987075_36987078delinsA , CM000676.1:g.36987075_36987078delinsA	GRCh37
NC_000014.7:g.36056826_36056829delinsA	NCBI36
NG_013365.1:g.7353_7356delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522719.4:c.521_524delinsT (NKX2-1)	ENSP00000429519.4:p.Tyr174_Glu175delinsLeu
ENST00000354822.7:c.611_614delinsT (NKX2-1) MANE Select	ENSP00000346879.6:p.Tyr204_Glu205delinsLeu
ENST00000521945.1:n.54+1595_54+1598delinsT
ENST00000522719.3:c.*648_*651delinsT (NKX2-1)	ENSP00000429519.3:n.*648_*651delinsT
ENST00000546983.2:c.373+1112_373+1115delinsT	ENSP00000449302.2:n.373+1112_373+1115delinsT
ENST00000354822.6:c.611_614delinsT (NKX2-1)	ENSP00000346879.5:p.Tyr204_Glu205delinsLeu
ENST00000498187.6:c.521_524delinsT (NKX2-1)	ENSP00000429607.2:p.Tyr174_Glu175delinsLeu
ENST00000518149.5:c.521_524delinsT (NKX2-1)	ENSP00000428341.1:p.Tyr174_Glu175delinsLeu
ENST00000522719.2:c.521_524delinsT (NKX2-1)	ENSP00000429519.2:p.Tyr174_Glu175delinsLeu
NM_001079668.2:c.611_614delinsT (NKX2-1)	NP_001073136.1:p.Tyr204_Glu205delinsLeu
NM_003317.3:c.521_524delinsT (NKX2-1)	NP_003308.1:p.Tyr174_Glu175delinsLeu
NM_001352986.1:c.-283+1595_-283+1598delinsT (SFTA3)	NP_001339915.1:n.-283+1595_-283+1598delinsT
NM_001352987.1:c.-237+1595_-237+1598delinsT (SFTA3)	NP_001339916.1:n.-237+1595_-237+1598delinsT
NM_001079668.3:c.611_614delinsT (NKX2-1) MANE Select	NP_001073136.1:p.Tyr204_Glu205delinsLeu
NM_003317.4:c.521_524delinsT (NKX2-1)	NP_003308.1:p.Tyr174_Glu175delinsLeu
NR_161364.1:n.89+1595_89+1598delinsT (SFTA3)
NR_161365.1:n.89+1595_89+1598delinsT (SFTA3)