Canonical Allele Identifier: CA7158444

Gene: NKX2-1 SFTA3

Linked Data

• ClinVar Variation Id: 1144672
• ClinVar RCV Id: RCV001483218 ; RCV004540426
• dbSNP Id: rs577015120
• ExAC: 14:36986875 TGCCCCCGCC / T
• gnomAD v2: 14-36986875-TGCCCCCGCC-T
• gnomAD v3: 14-36517670-TGCCCCCGCC-T
• gnomAD v4: 14-36517670-TGCCCCCGCC-T
• MyVariant Identifiers: chr14:g.36986882_36986890del (hg19) ; chr14:g.36986876_36986884del (hg19) ; chr14:g.36517672_36517680del (hg38) ; chr14:g.36517671_36517679del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36517683_36517691del , CM000676.2:g.36517683_36517691del	GRCh38
NC_000014.8:g.36986888_36986896del , CM000676.1:g.36986888_36986896del	GRCh37
NC_000014.7:g.36056639_36056647del	NCBI36
NG_013365.1:g.7547_7555del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522719.4:c.715_723del (NKX2-1)	ENSP00000429519.4:p.Gly239_Gly241del
ENST00000354822.7:c.805_813del (NKX2-1) MANE Select	ENSP00000346879.6:p.Gly269_Gly271del
ENST00000521945.1:n.54+1789_54+1797del
ENST00000522719.3:c.*842_*850del (NKX2-1)	ENSP00000429519.3:n.*842_*850del
ENST00000546983.2:c.373+1306_373+1314del	ENSP00000449302.2:n.373+1306_373+1314del
ENST00000354822.6:c.805_813del (NKX2-1)	ENSP00000346879.5:p.Gly269_Gly271del
ENST00000498187.6:c.715_723del (NKX2-1)	ENSP00000429607.2:p.Gly239_Gly241del
ENST00000518149.5:c.715_723del (NKX2-1)	ENSP00000428341.1:p.Gly239_Gly241del
ENST00000522719.2:c.715_723del (NKX2-1)	ENSP00000429519.2:p.Gly239_Gly241del
NM_001079668.2:c.805_813del (NKX2-1)	NP_001073136.1:p.Gly269_Gly271del
NM_003317.3:c.715_723del (NKX2-1)	NP_003308.1:p.Gly239_Gly241del
NM_001352986.1:c.-283+1789_-283+1797del (SFTA3)	NP_001339915.1:n.-283+1789_-283+1797del
NM_001352987.1:c.-237+1789_-237+1797del (SFTA3)	NP_001339916.1:n.-237+1789_-237+1797del
NM_001079668.3:c.805_813del (NKX2-1) MANE Select	NP_001073136.1:p.Gly269_Gly271del
NM_003317.4:c.715_723del (NKX2-1)	NP_003308.1:p.Gly239_Gly241del
NR_161364.1:n.89+1789_89+1797del (SFTA3)
NR_161365.1:n.89+1789_89+1797del (SFTA3)