Linked Data
dbSNP Id:
rs1851649646
gnomAD v3:
10-100988493-GGTGTTACCACTTCCTTCA-G
gnomAD v4:
10-100988493-GGTGTTACCACTTCCTTCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100988495_100988512del , CM000672.2:g.100988495_100988512del | GRCh38 |
| NC_000010.10:g.102748252_102748269del , CM000672.1:g.102748252_102748269del | GRCh37 |
| NC_000010.9:g.102738242_102738259del | NCBI36 |
| NG_011646.1:g.4005_4022del | |
| NG_012624.1:g.5960_5977del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311916.8:c.285_302del MANE Select | ENSP00000309595.2:p.Val96_Ser101del | |
| ENST00000370228.2:c.285_302del | ENSP00000359248.1:p.Val96_Ser101del | |
| ENST00000643860.1:c.285_302del | ENSP00000494389.1:p.Val96_Ser101del | |
| ENST00000646226.1:n.58+882_58+899del | ||
| ENST00000311916.6:c.285_302del | ENSP00000309595.2:p.Val96_Ser101del | |
| ENST00000370228.1:c.285_302del | ENSP00000359248.1:p.Val96_Ser101del | |
| ENST00000459764.1:n.86+615_86+632del | ||
| ENST00000473656.5:n.64+882_64+899del | ||
| ENST00000476766.5:n.191+938_191+955del | ||
| NM_001163812.1:c.285_302del | NP_001157284.1:p.Val96_Ser101del | |
| NM_001163813.1:c.-120+882_-120+899del | NP_001157285.1:n.-120+882_-120+899del | |
| NM_001163814.1:c.-120+882_-120+899del | NP_001157286.1:n.-120+882_-120+899del | |
| NM_021830.4:c.285_302del | NP_068602.2:p.Val96_Ser101del | |
| XM_011539975.1:c.-58+882_-58+899del | XP_011538277.1:n.-58+882_-58+899del | |
| XR_945788.1:n.1118_1135del | ||
| XM_011539975.2:c.-58+882_-58+899del | XP_011538277.1:n.-58+882_-58+899del | |
| XM_017016437.1:c.-1016_-999del | XP_016871926.1:n.-1016_-999del | |
| XR_001747142.1:n.459_476del | ||
| XR_001747144.1:n.459_476del | ||
| XR_002956991.1:n.459_476del | ||
| XR_945788.2:n.459_476del | ||
| NM_021830.5:c.285_302del MANE Select | NP_068602.2:p.Val96_Ser101del | |
| NM_001163812.2:c.285_302del | NP_001157284.1:p.Val96_Ser101del | |
| NM_001163813.2:c.-120+882_-120+899del | NP_001157285.1:n.-120+882_-120+899del | |
| NM_001163814.2:c.-120+882_-120+899del | NP_001157286.1:n.-120+882_-120+899del | |
| NM_001368275.1:c.-58+882_-58+899del | NP_001355204.1:n.-58+882_-58+899del | |
| NR_160738.1:n.953_970del | ||
| NR_160739.1:n.71+882_71+899del | ||
| NR_160740.1:n.953_970del | ||
| NR_160741.1:n.953_970del | ||
| NR_160742.1:n.953_970del |