Linked Data
dbSNP Id:
rs1265994211
gnomAD v2:
2-202490598-AC-A
gnomAD v3:
2-201625875-AC-A
gnomAD v4:
2-201625875-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201625876del , CM000664.2:g.201625876del | GRCh38 |
| NC_000002.11:g.202490599del , CM000664.1:g.202490599del | GRCh37 |
| NC_000002.10:g.202198844del | NCBI36 |
| NG_032049.1:g.22654del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471318.6:n.955+150del | ||
| ENST00000621467.5:c.1033+150del | ENSP00000480508.2:n.1033+150del | |
| ENST00000686475.1:n.1099+150del | ||
| ENST00000409883.7:c.1159+150del MANE Select | ENSP00000386264.2:n.1159+150del | |
| ENST00000286196.9:c.*723+150del | ENSP00000286196.5:n.*723+150del | |
| ENST00000409444.6:c.1135+150del | ENSP00000387203.2:n.1135+150del | |
| ENST00000409883.6:c.1159+150del | ENSP00000386264.2:n.1159+150del | |
| ENST00000471318.5:n.387+150del | ||
| ENST00000495329.1:n.298+150del | ||
| ENST00000621467.4:c.1135+150del | ENSP00000480508.1:n.1135+150del | |
| NM_001044385.2:c.1159+150del | NP_001037850.1:n.1159+150del | |
| NM_152388.3:c.1135+150del | NP_689601.2:n.1135+150del | |
| NM_001044385.3:c.1159+150del MANE Select | NP_001037850.1:n.1159+150del | |
| NM_152388.4:c.1135+150del | NP_689601.2:n.1135+150del |