Linked Data
ClinVar Variation Id:
313127
dbSNP Id:
rs5807883
gnomAD v2:
14-36986022-C-CAA
gnomAD v3:
14-36516817-C-CAA
gnomAD v4:
14-36516817-C-CAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36516831_36516832dup , CM000676.2:g.36516831_36516832dup | GRCh38 |
| NC_000014.8:g.36986036_36986037dup , CM000676.1:g.36986036_36986037dup | GRCh37 |
| NC_000014.7:g.36055787_36055788dup | NCBI36 |
| NG_013365.1:g.8407_8408dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354822.7:c.*459_*460dup (NKX2-1) MANE Select | ENSP00000346879.6:n.*459_*460dup | |
| ENST00000521945.1:n.54+2649_54+2650dup | ||
| ENST00000546983.2:c.373+2166_373+2167dup | ENSP00000449302.2:n.373+2166_373+2167dup | |
| ENST00000354822.6:c.*459_*460dup (NKX2-1) | ENSP00000346879.5:n.*459_*460dup | |
| ENST00000498187.6:c.*459_*460dup (NKX2-1) | ENSP00000429607.2:n.*459_*460dup | |
| ENST00000518149.5:c.*459_*460dup (NKX2-1) | ENSP00000428341.1:n.*459_*460dup | |
| NM_001079668.2:c.*459_*460dup (NKX2-1) | NP_001073136.1:n.*459_*460dup | |
| NM_003317.3:c.*459_*460dup (NKX2-1) | NP_003308.1:n.*459_*460dup | |
| NM_001352986.1:c.-283+2649_-283+2650dup (SFTA3) | NP_001339915.1:n.-283+2649_-283+2650dup | |
| NM_001352987.1:c.-237+2649_-237+2650dup (SFTA3) | NP_001339916.1:n.-237+2649_-237+2650dup | |
| NM_001079668.3:c.*459_*460dup (NKX2-1) MANE Select | NP_001073136.1:n.*459_*460dup | |
| NM_003317.4:c.*459_*460dup (NKX2-1) | NP_003308.1:n.*459_*460dup | |
| NR_161364.1:n.89+2649_89+2650dup (SFTA3) | ||
| NR_161365.1:n.89+2649_89+2650dup (SFTA3) |