Canonical Allele Identifier: CA913190431

Gene: NKX2-1 SFTA3

Linked Data

• ClinVar Variation Id: 635563
• ClinVar RCV Id: RCV000787039
• dbSNP Id: rs1594403511

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36517549dup , CM000676.2:g.36517549dup	GRCh38
NC_000014.8:g.36986754dup , CM000676.1:g.36986754dup	GRCh37
NC_000014.7:g.36056505dup	NCBI36
NG_013365.1:g.7677dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522719.4:c.845dup (NKX2-1)	ENSP00000429519.4:p.Gln283ThrfsTer?
ENST00000354822.7:c.935dup (NKX2-1) MANE Select	ENSP00000346879.6:p.Gln313ThrfsTer?
ENST00000521945.1:n.54+1919dup
ENST00000522719.3:c.*972dup (NKX2-1)	ENSP00000429519.3:n.*972dup
ENST00000546983.2:c.373+1436dup	ENSP00000449302.2:n.373+1436dup
ENST00000354822.6:c.935dup (NKX2-1)	ENSP00000346879.5:p.Gln313ThrfsTer?
ENST00000498187.6:c.845dup (NKX2-1)	ENSP00000429607.2:p.Gln283ThrfsTer?
ENST00000518149.5:c.845dup (NKX2-1)	ENSP00000428341.1:p.Gln283ThrfsTer?
ENST00000522719.2:c.845dup (NKX2-1)	ENSP00000429519.2:p.Gln283ThrfsTer?
NM_001079668.2:c.935dup (NKX2-1)	NP_001073136.1:p.Gln313ThrfsTer?
NM_003317.3:c.845dup (NKX2-1)	NP_003308.1:p.Gln283ThrfsTer?
NM_001352986.1:c.-283+1919dup (SFTA3)	NP_001339915.1:n.-283+1919dup
NM_001352987.1:c.-237+1919dup (SFTA3)	NP_001339916.1:n.-237+1919dup
NM_001079668.3:c.935dup (NKX2-1) MANE Select	NP_001073136.1:p.Gln313ThrfsTer?
NM_003317.4:c.845dup (NKX2-1)	NP_003308.1:p.Gln283ThrfsTer?
NR_161364.1:n.89+1919dup (SFTA3)
NR_161365.1:n.89+1919dup (SFTA3)