Linked Data
ClinVar Variation Id:
2076302
ClinVar RCV Id:
RCV002979209
dbSNP Id:
rs998616675
gnomAD v3:
9-92718923-GCTGGTGCGGCCCCCGGGA-G
gnomAD v4:
9-92718923-GCTGGTGCGGCCCCCGGGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92718935_92718952del , CM000671.2:g.92718935_92718952del | GRCh38 |
| NC_000009.11:g.95481217_95481234del , CM000671.1:g.95481217_95481234del | GRCh37 |
| NC_000009.10:g.94521038_94521055del | NCBI36 |
| NG_033908.1:g.50861_50878del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356884.11:c.1704_1721del MANE Select | ENSP00000349351.6:p.Pro569_Ser574del | |
| ENST00000356884.10:c.1704_1721del | ENSP00000349351.6:p.Pro569_Ser574del | |
| ENST00000375512.3:c.1704_1721del | ENSP00000364662.3:p.Pro569_Ser574del | |
| NM_001003800.1:c.1704_1721del | NP_001003800.1:p.Pro569_Ser574del | |
| NM_015250.3:c.1704_1721del | NP_056065.1:p.Pro569_Ser574del | |
| XM_017014551.1:c.1785_1802del | XP_016870040.1:p.Pro596_Ser601del | |
| NM_001003800.2:c.1704_1721del MANE Select | NP_001003800.1:p.Pro569_Ser574del | |
| NM_015250.4:c.1704_1721del | NP_056065.1:p.Pro569_Ser574del |