Canonical Allele Identifier: CA613804717

Gene: NKX2-1 SFTA3

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36519109del , CM000676.2:g.36519109del	GRCh38
NC_000014.8:g.36988314del , CM000676.1:g.36988314del	GRCh37
NC_000014.7:g.36058065del	NCBI36
NG_013365.1:g.6122del

Transcript Alleles

HGVS	Amino-acid Change
NM_001079668.3:c.344del (NKX2-1) MANE Select	NP_001073136.1:p.Gly115AlafsTer10
ENST00000354822.7:c.344del (NKX2-1) MANE Select	ENSP00000346879.6:p.Gly115AlafsTer10
NM_001079668.2:c.344del (NKX2-1)	NP_001073136.1:p.Gly115AlafsTer10
NM_001352986.1:c.-283+364del (SFTA3)	NP_001339915.1:n.-283+364del
NM_001352987.1:c.-237+364del (SFTA3)	NP_001339916.1:n.-237+364del
NM_003317.3:c.254del (NKX2-1)	NP_003308.1:p.Gly85AlafsTer10
NM_003317.4:c.254del (NKX2-1)	NP_003308.1:p.Gly85AlafsTer10
NR_161364.1:n.89+364del (SFTA3)
NR_161365.1:n.89+364del (SFTA3)
ENST00000354822.6:c.344del (NKX2-1)	ENSP00000346879.5:p.Gly115AlafsTer10
ENST00000498187.6:c.254del (NKX2-1)	ENSP00000429607.2:p.Gly85AlafsTer10
ENST00000518149.5:c.254del (NKX2-1)	ENSP00000428341.1:p.Gly85AlafsTer10
ENST00000521945.1:n.54+364del
ENST00000522719.2:c.254del (NKX2-1)	ENSP00000429519.2:p.Gly85AlafsTer10
ENST00000522719.3:c.*381del (NKX2-1)	ENSP00000429519.3:n.*381del
ENST00000522719.4:c.254del (NKX2-1)	ENSP00000429519.4:p.Gly85AlafsTer10
ENST00000546983.2:c.254del	ENSP00000449302.2:p.Gly85AlafsTer10