Canonical Allele Identifier: CA10644134

Gene: NKX2-1 SFTA3

Linked Data

• ClinVar Variation Id: 313136
• ClinVar RCV Id: RCV000267741 ; RCV000371682
• dbSNP Id: rs1555349072
• MyVariant Identifiers: chr14:g.36986297_36986298dupGG (hg19) ; chr14:g.36986296_36986297insGG (hg19) ; chr14:g.36517092_36517093dupGG (hg38) ; chr14:g.36517091_36517092insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36517097_36517098dup , CM000676.2:g.36517097_36517098dup	GRCh38
NC_000014.8:g.36986302_36986303dup , CM000676.1:g.36986302_36986303dup	GRCh37
NC_000014.7:g.36056053_36056054dup	NCBI36
NG_013365.1:g.8133_8134dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354822.7:c.*185_*186dup (NKX2-1) MANE Select	ENSP00000346879.6:n.*185_*186dup
ENST00000521945.1:n.54+2375_54+2376dup
ENST00000546983.2:c.373+1892_373+1893dup	ENSP00000449302.2:n.373+1892_373+1893dup
ENST00000354822.6:c.*185_*186dup (NKX2-1)	ENSP00000346879.5:n.*185_*186dup
ENST00000498187.6:c.*185_*186dup (NKX2-1)	ENSP00000429607.2:n.*185_*186dup
ENST00000518149.5:c.*185_*186dup (NKX2-1)	ENSP00000428341.1:n.*185_*186dup
NM_001079668.2:c.*185_*186dup (NKX2-1)	NP_001073136.1:n.*185_*186dup
NM_003317.3:c.*185_*186dup (NKX2-1)	NP_003308.1:n.*185_*186dup
NM_001352986.1:c.-283+2375_-283+2376dup (SFTA3)	NP_001339915.1:n.-283+2375_-283+2376dup
NM_001352987.1:c.-237+2375_-237+2376dup (SFTA3)	NP_001339916.1:n.-237+2375_-237+2376dup
NM_001079668.3:c.*185_*186dup (NKX2-1) MANE Select	NP_001073136.1:n.*185_*186dup
NM_003317.4:c.*185_*186dup (NKX2-1)	NP_003308.1:n.*185_*186dup
NR_161364.1:n.89+2375_89+2376dup (SFTA3)
NR_161365.1:n.89+2375_89+2376dup (SFTA3)