Canonical Allele Identifier: CA258878084

Gene: NKX2-1 SFTA3

Linked Data

• dbSNP Id: rs566318183
• gnomAD v3: 14-36518091-T-TGGCCCGCCC
• gnomAD v4: 14-36518091-T-TGGCCCGCCC
• MyVariant Identifiers: chr14:g.36987296_36987297insGGCCCGCCC (hg19) ; chr14:g.36518091_36518092insGGCCCGCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36518101_36518109dup , CM000676.2:g.36518101_36518109dup	GRCh38
NC_000014.8:g.36987306_36987314dup , CM000676.1:g.36987306_36987314dup	GRCh37
NC_000014.7:g.36057057_36057065dup	NCBI36
NG_013365.1:g.7126_7134dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522719.4:c.374-80_374-72dup (NKX2-1)	ENSP00000429519.4:n.374-80_374-72dup
ENST00000354822.7:c.464-80_464-72dup (NKX2-1) MANE Select	ENSP00000346879.6:n.464-80_464-72dup
ENST00000521945.1:n.54+1368_54+1376dup
ENST00000522719.3:c.*501-80_*501-72dup (NKX2-1)	ENSP00000429519.3:n.*501-80_*501-72dup
ENST00000546983.2:c.373+885_373+893dup	ENSP00000449302.2:n.373+885_373+893dup
ENST00000354822.6:c.464-80_464-72dup (NKX2-1)	ENSP00000346879.5:n.464-80_464-72dup
ENST00000498187.6:c.374-80_374-72dup (NKX2-1)	ENSP00000429607.2:n.374-80_374-72dup
ENST00000518149.5:c.374-80_374-72dup (NKX2-1)	ENSP00000428341.1:n.374-80_374-72dup
ENST00000522719.2:c.374-80_374-72dup (NKX2-1)	ENSP00000429519.2:n.374-80_374-72dup
NM_001079668.2:c.464-80_464-72dup (NKX2-1)	NP_001073136.1:n.464-80_464-72dup
NM_003317.3:c.374-80_374-72dup (NKX2-1)	NP_003308.1:n.374-80_374-72dup
NM_001352986.1:c.-283+1368_-283+1376dup (SFTA3)	NP_001339915.1:n.-283+1368_-283+1376dup
NM_001352987.1:c.-237+1368_-237+1376dup (SFTA3)	NP_001339916.1:n.-237+1368_-237+1376dup
NM_001079668.3:c.464-80_464-72dup (NKX2-1) MANE Select	NP_001073136.1:n.464-80_464-72dup
NM_003317.4:c.374-80_374-72dup (NKX2-1)	NP_003308.1:n.374-80_374-72dup
NR_161364.1:n.89+1368_89+1376dup (SFTA3)
NR_161365.1:n.89+1368_89+1376dup (SFTA3)