Canonical Allele Identifier: CA16619867

Gene: NKX2-1 SFTA3

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36517518_36517529dup , CM000676.2:g.36517518_36517529dup	GRCh38
NC_000014.8:g.36986723_36986734dup , CM000676.1:g.36986723_36986734dup	GRCh37
NC_000014.7:g.36056474_36056485dup	NCBI36
NG_013365.1:g.7706_7717dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522719.4:c.874_885dup (NKX2-1)	ENSP00000429519.4:p.Gln295_Ala296insHisGlnAlaGln
ENST00000354822.7:c.964_975dup (NKX2-1) MANE Select	ENSP00000346879.6:p.Gln325_Ala326insHisGlnAlaGln
ENST00000521945.1:n.54+1948_54+1959dup
ENST00000522719.3:c.*1001_*1012dup (NKX2-1)	ENSP00000429519.3:n.*1001_*1012dup
ENST00000546983.2:c.373+1465_373+1476dup	ENSP00000449302.2:n.373+1465_373+1476dup
ENST00000354822.6:c.964_975dup (NKX2-1)	ENSP00000346879.5:p.Gln325_Ala326insHisGlnAlaGln
ENST00000498187.6:c.874_885dup (NKX2-1)	ENSP00000429607.2:p.Gln295_Ala296insHisGlnAlaGln
ENST00000518149.5:c.874_885dup (NKX2-1)	ENSP00000428341.1:p.Gln295_Ala296insHisGlnAlaGln
ENST00000522719.2:c.874_885dup (NKX2-1)	ENSP00000429519.2:p.Gln295_Ala296insHisGlnAlaGln
NM_001079668.2:c.964_975dup (NKX2-1)	NP_001073136.1:p.Gln325_Ala326insHisGlnAlaGln
NM_003317.3:c.874_885dup (NKX2-1)	NP_003308.1:p.Gln295_Ala296insHisGlnAlaGln
NM_001352986.1:c.-283+1948_-283+1959dup (SFTA3)	NP_001339915.1:n.-283+1948_-283+1959dup
NM_001352987.1:c.-237+1948_-237+1959dup (SFTA3)	NP_001339916.1:n.-237+1948_-237+1959dup
NM_001079668.3:c.964_975dup (NKX2-1) MANE Select	NP_001073136.1:p.Gln325_Ala326insHisGlnAlaGln
NM_003317.4:c.874_885dup (NKX2-1)	NP_003308.1:p.Gln295_Ala296insHisGlnAlaGln
NR_161364.1:n.89+1948_89+1959dup (SFTA3)
NR_161365.1:n.89+1948_89+1959dup (SFTA3)