Canonical Allele Identifier: CA658798208

Gene: NKX2-1 SFTA3

Linked Data

• ClinVar Variation Id: 521085
• ClinVar RCV Id: RCV000623729 ; RCV000787358 ; RCV003336094
• dbSNP Id: rs1555349214
• MyVariant Identifiers: chr14:g.36987043del (hg19) ; chr14:g.36517838del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36517839del , CM000676.2:g.36517839del	GRCh38
NC_000014.8:g.36987044del , CM000676.1:g.36987044del	GRCh37
NC_000014.7:g.36056795del	NCBI36
NG_013365.1:g.7388del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522719.4:c.556del (NKX2-1)	ENSP00000429519.4:p.Leu186CysfsTer12
ENST00000354822.7:c.646del (NKX2-1) MANE Select	ENSP00000346879.6:p.Leu216CysfsTer12
ENST00000521945.1:n.54+1630del
ENST00000522719.3:c.*683del (NKX2-1)	ENSP00000429519.3:n.*683del
ENST00000546983.2:c.373+1147del	ENSP00000449302.2:n.373+1147del
ENST00000354822.6:c.646del (NKX2-1)	ENSP00000346879.5:p.Leu216CysfsTer12
ENST00000498187.6:c.556del (NKX2-1)	ENSP00000429607.2:p.Leu186CysfsTer12
ENST00000518149.5:c.556del (NKX2-1)	ENSP00000428341.1:p.Leu186CysfsTer12
ENST00000522719.2:c.556del (NKX2-1)	ENSP00000429519.2:p.Leu186CysfsTer12
NM_001079668.2:c.646del (NKX2-1)	NP_001073136.1:p.Leu216CysfsTer12
NM_003317.3:c.556del (NKX2-1)	NP_003308.1:p.Leu186CysfsTer12
NM_001352986.1:c.-283+1630del (SFTA3)	NP_001339915.1:n.-283+1630del
NM_001352987.1:c.-237+1630del (SFTA3)	NP_001339916.1:n.-237+1630del
NM_001079668.3:c.646del (NKX2-1) MANE Select	NP_001073136.1:p.Leu216CysfsTer12
NM_003317.4:c.556del (NKX2-1)	NP_003308.1:p.Leu186CysfsTer12
NR_161364.1:n.89+1630del (SFTA3)
NR_161365.1:n.89+1630del (SFTA3)