Linked Data
dbSNP Id:
rs757848690
ExAC:
11:66328134 CAGA / C
gnomAD v2:
11-66328134-CAGA-C
gnomAD v3:
11-66560663-CAGA-C
gnomAD v4:
11-66560663-CAGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66560667_66560669del , CM000673.2:g.66560667_66560669del | GRCh38 |
| NC_000011.9:g.66328138_66328140del , CM000673.1:g.66328138_66328140del | GRCh37 |
| NC_000011.8:g.66084714_66084716del | NCBI36 |
| NG_013304.2:g.18748_18750del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513398.2:c.1772_1774del MANE Select | ENSP00000426797.1:p.Lys591del | |
| ENST00000502692.5:c.1901_1903del | ENSP00000422007.1:p.Lys634del | |
| ENST00000513398.1:c.1772_1774del | ENSP00000426797.1:p.Lys591del | |
| NM_001104.3:c.1772_1774del | NP_001095.2:p.Lys591del | |
| NM_001258371.2:c.1901_1903del | NP_001245300.2:p.Lys634del | |
| NM_001104.4:c.1772_1774del MANE Select | NP_001095.2:p.Lys591del | |
| NM_001258371.3:c.1901_1903del | NP_001245300.2:p.Lys634del |