Canonical Allele Identifier: CA2129434727
Gene: NKX2-1 HGNC NCBI
SFTA3 HGNC NCBI

Linked Data

dbSNP Id: rs1881140989

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36518178del , CM000676.2:g.36518178del GRCh38
NC_000014.8:g.36987383del , CM000676.1:g.36987383del GRCh37
NC_000014.7:g.36057134del NCBI36
NG_013365.1:g.7048del

Transcript Alleles

HGVS Amino-acid Change
ENST00000522719.4:c.374-158del (NKX2-1) ENSP00000429519.4:n.374-158del
ENST00000354822.7:c.464-158del (NKX2-1) MANE Select ENSP00000346879.6:n.464-158del
ENST00000521945.1:n.54+1290del
ENST00000522719.3:c.*501-158del (NKX2-1) ENSP00000429519.3:n.*501-158del
ENST00000546983.2:c.373+807del ENSP00000449302.2:n.373+807del
ENST00000354822.6:c.464-158del (NKX2-1) ENSP00000346879.5:n.464-158del
ENST00000498187.6:c.374-158del (NKX2-1) ENSP00000429607.2:n.374-158del
ENST00000518149.5:c.374-158del (NKX2-1) ENSP00000428341.1:n.374-158del
ENST00000522719.2:c.374-158del (NKX2-1) ENSP00000429519.2:n.374-158del
NM_001079668.2:c.464-158del (NKX2-1) NP_001073136.1:n.464-158del
NM_003317.3:c.374-158del (NKX2-1) NP_003308.1:n.374-158del
NM_001352986.1:c.-283+1290del (SFTA3) NP_001339915.1:n.-283+1290del
NM_001352987.1:c.-237+1290del (SFTA3) NP_001339916.1:n.-237+1290del
NM_001079668.3:c.464-158del (NKX2-1) MANE Select NP_001073136.1:n.464-158del
NM_003317.4:c.374-158del (NKX2-1) NP_003308.1:n.374-158del
NR_161364.1:n.89+1290del (SFTA3)
NR_161365.1:n.89+1290del (SFTA3)