Linked Data
dbSNP Id:
rs1298665154
gnomAD v2:
17-6607118-GA-G
gnomAD v3:
17-6703799-GA-G
gnomAD v4:
17-6703799-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6703800del , CM000679.2:g.6703800del | GRCh38 |
| NC_000017.10:g.6607119del , CM000679.1:g.6607119del | GRCh37 |
| NC_000017.9:g.6547843del | NCBI36 |
| NG_034220.1:g.14622del , LRG_1020:g.14622del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433363.7:c.547+78del MANE Select | ENSP00000406220.2:n.547+78del | |
| ENST00000293800.10:c.496+78del | ENSP00000293800.6:n.496+78del | |
| ENST00000381074.8:c.418+78del | ENSP00000370464.4:n.418+78del | |
| ENST00000433363.6:c.547+78del | ENSP00000406220.2:n.547+78del | |
| ENST00000572094.1:c.*297+78del | ENSP00000461495.1:n.*297+78del | |
| ENST00000572352.5:c.436+78del | ENSP00000461622.1:n.436+78del | |
| ENST00000573648.5:c.547+78del | ENSP00000459372.1:n.547+78del | |
| ENST00000574824.5:n.1680+78del | ||
| NM_001143838.2:c.547+78del | NP_001137310.1:n.547+78del | |
| NM_001284509.1:c.496+78del | NP_001271438.1:n.496+78del | |
| NM_001284510.1:c.418+78del | NP_001271439.1:n.418+78del | |
| NM_177550.4:c.547+78del , LRG_1020t1:c.547+78del | NP_808218.1:n.547+78del | |
| XM_006721504.2:c.436+78del | XP_006721567.1:n.436+78del | |
| XM_011523795.1:c.547+78del | XP_011522097.1:n.547+78del | |
| XM_011523795.3:c.547+78del | XP_011522097.1:n.547+78del | |
| NM_001143838.3:c.547+78del | NP_001137310.1:n.547+78del | |
| NM_001284509.2:c.496+78del | NP_001271438.1:n.496+78del | |
| NM_001284510.2:c.418+78del | NP_001271439.1:n.418+78del | |
| NM_177550.5:c.547+78del MANE Select | NP_808218.1:n.547+78del |