Linked Data
dbSNP Id:
rs1172051417
gnomAD v2:
17-41150604-GA-G
gnomAD v3:
17-42998587-GA-G
gnomAD v4:
17-42998587-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42998588del , CM000679.2:g.42998588del | GRCh38 |
| NC_000017.10:g.41150605del , CM000679.1:g.41150605del | GRCh37 |
| NC_000017.9:g.38404131del | NCBI36 |
| NG_053099.1:g.5316del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253788.12:c.-3+117del MANE Select | ENSP00000253788.5:n.-3+117del | |
| ENST00000589913.6:c.-163del | ENSP00000464813.1:n.-163del | |
| ENST00000253788.9:c.-3+117del | ENSP00000253788.4:n.-3+117del | |
| ENST00000587478.1:n.53+117del | ||
| ENST00000588830.1:c.-3+117del | ENSP00000468468.1:n.-3+117del | |
| ENST00000589037.5:c.-2-161del | ENSP00000467587.1:n.-2-161del | |
| ENST00000589913.5:c.-163del | ENSP00000464813.1:n.-163del | |
| ENST00000593262.1:n.170del | ||
| NM_000988.3:c.-3+117del | NP_000979.1:n.-3+117del | |
| NM_000988.5:c.-3+117del MANE Select | NP_000979.1:n.-3+117del | |
| NM_001349921.1:c.-2-161del | NP_001336850.1:n.-2-161del | |
| NM_001349922.1:c.-163del | NP_001336851.1:n.-163del | |
| NR_146327.1:n.81+117del | ||
| NM_001349921.2:c.-2-161del | NP_001336850.1:n.-2-161del | |
| NM_001349922.2:c.-163del | NP_001336851.1:n.-163del | |
| NR_146327.2:n.53+117del |