Linked Data
ClinVar Variation Id:
8977
ClinVar RCV Id:
RCV000009540
dbSNP Id:
rs587776707
PubMed:
PMID:11854319
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36517811_36517812dup , CM000676.2:g.36517811_36517812dup | GRCh38 |
| NC_000014.8:g.36987016_36987017dup , CM000676.1:g.36987016_36987017dup | GRCh37 |
| NC_000014.7:g.36056767_36056768dup | NCBI36 |
| NG_013365.1:g.7414_7415dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000522719.4:c.582_583dup (NKX2-1) | ENSP00000429519.4:p.Ala195GlyfsTer4 | |
| ENST00000354822.7:c.672_673dup (NKX2-1) MANE Select | ENSP00000346879.6:p.Ala225GlyfsTer4 | |
| ENST00000521945.1:n.54+1656_54+1657dup | ||
| ENST00000522719.3:c.*709_*710dup (NKX2-1) | ENSP00000429519.3:n.*709_*710dup | |
| ENST00000546983.2:c.373+1173_373+1174dup | ENSP00000449302.2:n.373+1173_373+1174dup | |
| ENST00000354822.6:c.672_673dup (NKX2-1) | ENSP00000346879.5:p.Ala225GlyfsTer4 | |
| ENST00000498187.6:c.582_583dup (NKX2-1) | ENSP00000429607.2:p.Ala195GlyfsTer4 | |
| ENST00000518149.5:c.582_583dup (NKX2-1) | ENSP00000428341.1:p.Ala195GlyfsTer4 | |
| ENST00000522719.2:c.582_583dup (NKX2-1) | ENSP00000429519.2:p.Ala195GlyfsTer4 | |
| NM_001079668.2:c.672_673dup (NKX2-1) | NP_001073136.1:p.Ala225GlyfsTer4 | |
| NM_003317.3:c.582_583dup (NKX2-1) | NP_003308.1:p.Ala195GlyfsTer4 | |
| NM_001352986.1:c.-283+1656_-283+1657dup (SFTA3) | NP_001339915.1:n.-283+1656_-283+1657dup | |
| NM_001352987.1:c.-237+1656_-237+1657dup (SFTA3) | NP_001339916.1:n.-237+1656_-237+1657dup | |
| NM_001079668.3:c.672_673dup (NKX2-1) MANE Select | NP_001073136.1:p.Ala225GlyfsTer4 | |
| NM_003317.4:c.582_583dup (NKX2-1) | NP_003308.1:p.Ala195GlyfsTer4 | |
| NR_161364.1:n.89+1656_89+1657dup (SFTA3) | ||
| NR_161365.1:n.89+1656_89+1657dup (SFTA3) |