Canonical Allele Identifier: CA10645287

Gene: NKX2-1 SFTA3

Linked Data

• ClinVar Variation Id: 313132
• ClinVar RCV Id: RCV000314871 ; RCV000396800 ; RCV002274979
• dbSNP Id: rs886050480
• gnomAD v2: 14-36986272-T-TA
• gnomAD v3: 14-36517067-T-TA
• gnomAD v4: 14-36517067-T-TA
• MyVariant Identifiers: chr14:g.36986273dupA (hg19) ; chr14:g.36986273_36986274insA (hg19) ; chr14:g.36986272_36986273insA (hg19) ; chr14:g.36517068dupA (hg38) ; chr14:g.36517068_36517069insA (hg38) ; chr14:g.36517067_36517068insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36517078dup , CM000676.2:g.36517078dup	GRCh38
NC_000014.8:g.36986283dup , CM000676.1:g.36986283dup	GRCh37
NC_000014.7:g.36056034dup	NCBI36
NG_013365.1:g.8158dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354822.7:c.*210dup (NKX2-1) MANE Select	ENSP00000346879.6:n.*210dup
ENST00000521945.1:n.54+2400dup
ENST00000546983.2:c.373+1917dup	ENSP00000449302.2:n.373+1917dup
ENST00000354822.6:c.*210dup (NKX2-1)	ENSP00000346879.5:n.*210dup
ENST00000498187.6:c.*210dup (NKX2-1)	ENSP00000429607.2:n.*210dup
ENST00000518149.5:c.*210dup (NKX2-1)	ENSP00000428341.1:n.*210dup
NM_001079668.2:c.*210dup (NKX2-1)	NP_001073136.1:n.*210dup
NM_003317.3:c.*210dup (NKX2-1)	NP_003308.1:n.*210dup
NM_001352986.1:c.-283+2400dup (SFTA3)	NP_001339915.1:n.-283+2400dup
NM_001352987.1:c.-237+2400dup (SFTA3)	NP_001339916.1:n.-237+2400dup
NM_001079668.3:c.*210dup (NKX2-1) MANE Select	NP_001073136.1:n.*210dup
NM_003317.4:c.*210dup (NKX2-1)	NP_003308.1:n.*210dup
NR_161364.1:n.89+2400dup (SFTA3)
NR_161365.1:n.89+2400dup (SFTA3)