Linked Data
dbSNP Id:
rs531513845
gnomAD v2:
10-26986880-GCGGGGTAGCTC-G
gnomAD v3:
10-26697951-GCGGGGTAGCTC-G
gnomAD v4:
10-26697951-GCGGGGTAGCTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.26697969_26697979del , CM000672.2:g.26697969_26697979del | GRCh38 |
| NC_000010.10:g.26986898_26986908del , CM000672.1:g.26986898_26986908del | GRCh37 |
| NC_000010.9:g.27026904_27026914del | NCBI36 |
| NG_008972.1:g.5304_5314del | |
| NG_008972.2:g.5304_5314del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376215.10:c.129+129_129+139del MANE Select | ENSP00000365388.5:n.129+129_129+139del | |
| ENST00000376215.9:c.129+129_129+139del | ENSP00000365388.5:n.129+129_129+139del | |
| NM_014317.3:c.129+129_129+139del | NP_055132.2:n.129+129_129+139del | |
| XR_428636.2:n.417+129_417+139del | ||
| XR_930486.1:n.417+129_417+139del | ||
| NM_001321978.1:c.129+129_129+139del | NP_001308907.1:n.129+129_129+139del | |
| NM_001321979.1:c.-465+129_-465+139del | NP_001308908.1:n.-465+129_-465+139del | |
| NM_014317.4:c.129+129_129+139del | NP_055132.2:n.129+129_129+139del | |
| XM_024447922.1:c.129+129_129+139del | XP_024303690.1:n.129+129_129+139del | |
| XR_428636.4:n.417+129_417+139del | ||
| NM_014317.5:c.129+129_129+139del MANE Select | NP_055132.2:n.129+129_129+139del | |
| NM_001321978.2:c.129+129_129+139del | NP_001308907.1:n.129+129_129+139del | |
| NM_001321979.2:c.-465+129_-465+139del | NP_001308908.1:n.-465+129_-465+139del |