Linked Data
ClinVar Variation Id:
240073
dbSNP Id:
rs770285398
ExAC:
8:65528773 ATTGT / A
gnomAD v2:
8-65528773-ATTGT-A
gnomAD v3:
8-64616216-ATTGT-A
gnomAD v4:
8-64616216-ATTGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64616219_64616222del , CM000670.2:g.64616219_64616222del | GRCh38 |
| NC_000008.10:g.65528776_65528779del , CM000670.1:g.65528776_65528779del | GRCh37 |
| NC_000008.9:g.65691330_65691333del | NCBI36 |
| NG_008338.1:g.187572_187575del | |
| NG_008338.2:g.187572_187575del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310193.4:c.321_324del MANE Select | ENSP00000310721.3:p.Lys107AsnfsTer2 | |
| ENST00000310193.3:c.321_324del | ENSP00000310721.3:p.Lys107AsnfsTer2 | |
| NM_004820.3:c.321_324del | NP_004811.1:p.Lys107AsnfsTer2 | |
| NM_001324112.1:c.321_324del | NP_001311041.1:p.Lys107AsnfsTer2 | |
| NM_004820.4:c.321_324del | NP_004811.1:p.Lys107AsnfsTer2 | |
| XM_017014002.1:c.387_390del | XP_016869491.1:p.Lys129AsnfsTer2 | |
| NM_004820.5:c.321_324del MANE Select | NP_004811.1:p.Lys107AsnfsTer2 | |
| NM_001324112.2:c.321_324del | NP_001311041.1:p.Lys107AsnfsTer2 |