Canonical Allele Identifier: CA2129438053
Gene: NKX2-1 HGNC NCBI
SFTA3 HGNC NCBI

Linked Data

dbSNP Id: rs1881096890
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36517647_36517649del , CM000676.2:g.36517647_36517649del GRCh38
NC_000014.8:g.36986852_36986854del , CM000676.1:g.36986852_36986854del GRCh37
NC_000014.7:g.36056603_36056605del NCBI36
NG_013365.1:g.7577_7579del

Transcript Alleles

HGVS Amino-acid change
ENST00000522719.4:c.745_747del (NKX2-1) ENSP00000429519.4:p.Gln249del
ENST00000354822.7:c.835_837del (NKX2-1) MANE Select ENSP00000346879.6:p.Gln279del
ENST00000521945.1:n.54+1819_54+1821del
ENST00000522719.3:c.*872_*874del (NKX2-1) ENSP00000429519.3:n.*872_*874del
ENST00000546983.2:c.373+1336_373+1338del ENSP00000449302.2:n.373+1336_373+1338del
ENST00000354822.6:c.835_837del (NKX2-1) ENSP00000346879.5:p.Gln279del
ENST00000498187.6:c.745_747del (NKX2-1) ENSP00000429607.2:p.Gln249del
ENST00000518149.5:c.745_747del (NKX2-1) ENSP00000428341.1:p.Gln249del
ENST00000522719.2:c.745_747del (NKX2-1) ENSP00000429519.2:p.Gln249del
NM_001079668.2:c.835_837del (NKX2-1) NP_001073136.1:p.Gln279del
NM_003317.3:c.745_747del (NKX2-1) NP_003308.1:p.Gln249del
NM_001352986.1:c.-283+1819_-283+1821del (SFTA3) NP_001339915.1:n.-283+1819_-283+1821del
NM_001352987.1:c.-237+1819_-237+1821del (SFTA3) NP_001339916.1:n.-237+1819_-237+1821del
NM_001079668.3:c.835_837del (NKX2-1) MANE Select NP_001073136.1:p.Gln279del
NM_003317.4:c.745_747del (NKX2-1) NP_003308.1:p.Gln249del
NR_161364.1:n.89+1819_89+1821del (SFTA3)
NR_161365.1:n.89+1819_89+1821del (SFTA3)
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