Canonical Allele Identifier: CA10645285
Gene: NKX2-1 HGNC NCBI
SFTA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 313129
ClinVar RCV Id: RCV000280837 RCV000373071
dbSNP Id: rs5807883
gnomAD v2: 14-36986022-C-CA
gnomAD v3: 14-36516817-C-CA
gnomAD v4: 14-36516817-C-CA
COSMIC: COSN20111202 COSN20111203
MyVariant Identifiers: chr14:g.36986023dupA (hg19) chr14:g.36986024_36986025insA (hg19) chr14:g.36986022_36986023insA (hg19) chr14:g.36516818dupA (hg38) chr14:g.36516819_36516820insA (hg38) chr14:g.36516817_36516818insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36516832dup , CM000676.2:g.36516832dup GRCh38
NC_000014.8:g.36986037dup , CM000676.1:g.36986037dup GRCh37
NC_000014.7:g.36055788dup NCBI36
NG_013365.1:g.8408dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000354822.7:c.*460dup (NKX2-1) MANE Select ENSP00000346879.6:n.*460dup
ENST00000521945.1:n.54+2650dup
ENST00000546983.2:c.373+2167dup ENSP00000449302.2:n.373+2167dup
ENST00000354822.6:c.*460dup (NKX2-1) ENSP00000346879.5:n.*460dup
ENST00000498187.6:c.*460dup (NKX2-1) ENSP00000429607.2:n.*460dup
ENST00000518149.5:c.*460dup (NKX2-1) ENSP00000428341.1:n.*460dup
NM_001079668.2:c.*460dup (NKX2-1) NP_001073136.1:n.*460dup
NM_003317.3:c.*460dup (NKX2-1) NP_003308.1:n.*460dup
NM_001352986.1:c.-283+2650dup (SFTA3) NP_001339915.1:n.-283+2650dup
NM_001352987.1:c.-237+2650dup (SFTA3) NP_001339916.1:n.-237+2650dup
NM_001079668.3:c.*460dup (NKX2-1) MANE Select NP_001073136.1:n.*460dup
NM_003317.4:c.*460dup (NKX2-1) NP_003308.1:n.*460dup
NR_161364.1:n.89+2650dup (SFTA3)
NR_161365.1:n.89+2650dup (SFTA3)
Search 100 bp 5'
Search 100 bp 3'