Linked Data
dbSNP Id:
rs1161801519
gnomAD v2:
2-96917246-CGA-C
gnomAD v3:
2-96251508-CGA-C
gnomAD v4:
2-96251508-CGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96251511_96251512del , CM000664.2:g.96251511_96251512del | GRCh38 |
| NC_000002.11:g.96917249_96917250del , CM000664.1:g.96917249_96917250del | GRCh37 |
| NC_000002.10:g.96280976_96280977del | NCBI36 |
| NG_027695.1:g.19504_19505del , LRG_528:g.19504_19505del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258439.8:c.*2298_*2299del MANE Select | ENSP00000258439.3:n.*2298_*2299del | |
| ENST00000258439.7:c.*2298_*2299del | ENSP00000258439.2:n.*2298_*2299del | |
| NM_001193304.2:c.*2298_*2299del | NP_001180233.1:n.*2298_*2299del | |
| NM_017849.3:c.*2298_*2299del , LRG_528t1:c.*2298_*2299del | NP_060319.1:n.*2298_*2299del | |
| XM_017004450.1:c.*1599_*1600del | XP_016859939.1:n.*1599_*1600del | |
| XM_017004452.1:c.*2298_*2299del | XP_016859941.1:n.*2298_*2299del | |
| NM_001193304.3:c.*2298_*2299del | NP_001180233.1:n.*2298_*2299del | |
| NM_017849.4:c.*2298_*2299del MANE Select | NP_060319.1:n.*2298_*2299del |