Linked Data
dbSNP Id:
rs752128198
gnomAD v2:
9-97401631-GGCAGGTGCGGGGCT-G
gnomAD v3:
9-94639349-GGCAGGTGCGGGGCT-G
gnomAD v4:
9-94639349-GGCAGGTGCGGGGCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.94639361_94639374del , CM000671.2:g.94639361_94639374del | GRCh38 |
| NC_000009.11:g.97401643_97401656del , CM000671.1:g.97401643_97401656del | GRCh37 |
| NC_000009.10:g.96441464_96441477del | NCBI36 |
| NG_008174.1:g.5887_5900del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375326.9:c.-53_-40del MANE Select | ENSP00000364475.5:n.-53_-40del | |
| ENST00000375326.8:c.-53_-40del | ENSP00000364475.4:n.-53_-40del | |
| ENST00000414122.1:c.-83+681_-83+694del | ENSP00000411619.1:n.-83+681_-83+694del | |
| ENST00000415431.5:c.-24-29_-24-16del | ENSP00000408025.1:n.-24-29_-24-16del | |
| NM_000507.3:c.-53_-40del | NP_000498.2:n.-53_-40del | |
| NM_001127628.1:c.-24-29_-24-16del | NP_001121100.1:n.-24-29_-24-16del | |
| XM_006717005.2:c.-77+681_-77+694del | XP_006717068.1:n.-77+681_-77+694del | |
| XM_006717005.4:c.-77+681_-77+694del | XP_006717068.1:n.-77+681_-77+694del | |
| NM_000507.4:c.-53_-40del MANE Select | NP_000498.2:n.-53_-40del | |
| NM_001127628.2:c.-24-29_-24-16del | NP_001121100.1:n.-24-29_-24-16del |