Canonical Allele Identifier: CA10644130

Gene: NKX2-1 SFTA3

Linked Data

• ClinVar Variation Id: 313123
• ClinVar RCV Id: RCV000275840 ; RCV000368160
• dbSNP Id: rs534281105
• gnomAD v2: 14-36985901-AG-A
• gnomAD v3: 14-36516696-AG-A
• gnomAD v4: 14-36516696-AG-A
• MyVariant Identifiers: chr14:g.36985902del (hg19) ; chr14:g.36516697del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36516699del , CM000676.2:g.36516699del	GRCh38
NC_000014.8:g.36985904del , CM000676.1:g.36985904del	GRCh37
NC_000014.7:g.36055655del	NCBI36
NG_013365.1:g.8529del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354822.7:c.*581del (NKX2-1) MANE Select	ENSP00000346879.6:n.*581del
ENST00000521945.1:n.54+2771del
ENST00000546983.2:c.373+2288del	ENSP00000449302.2:n.373+2288del
ENST00000354822.6:c.*581del (NKX2-1)	ENSP00000346879.5:n.*581del
ENST00000498187.6:c.*581del (NKX2-1)	ENSP00000429607.2:n.*581del
ENST00000518149.5:c.*581del (NKX2-1)	ENSP00000428341.1:n.*581del
NM_001079668.2:c.*581del (NKX2-1)	NP_001073136.1:n.*581del
NM_003317.3:c.*581del (NKX2-1)	NP_003308.1:n.*581del
NM_001352986.1:c.-283+2771del (SFTA3)	NP_001339915.1:n.-283+2771del
NM_001352987.1:c.-237+2771del (SFTA3)	NP_001339916.1:n.-237+2771del
NM_001079668.3:c.*581del (NKX2-1) MANE Select	NP_001073136.1:n.*581del
NM_003317.4:c.*581del (NKX2-1)	NP_003308.1:n.*581del
NR_161364.1:n.89+2771del (SFTA3)
NR_161365.1:n.89+2771del (SFTA3)