Linked Data
ClinVar Variation Id:
2184912
ClinVar RCV Id:
RCV002603553
dbSNP Id:
rs764850876
ExAC:
17:39768783 GAGAC / G
gnomAD v2:
17-39768783-GAGAC-G
gnomAD v3:
17-41612531-GAGAC-G
gnomAD v4:
17-41612531-GAGAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612538_41612541del , CM000679.2:g.41612538_41612541del | GRCh38 |
| NC_000017.10:g.39768790_39768793del , CM000679.1:g.39768790_39768793del | GRCh37 |
| NC_000017.9:g.37022316_37022319del | NCBI36 |
| NG_008301.1:g.5293_5296del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.154_157del MANE Select | ENSP00000301653.3:p.Val52ProfsTer? | |
| ENST00000301653.8:c.154_157del | ENSP00000301653.3:p.Val52ProfsTer? | |
| ENST00000588319.1:n.231_234del | ||
| ENST00000593067.1:c.-312-249_-312-246del | ENSP00000467124.1:n.-312-249_-312-246del | |
| NM_005557.3:c.154_157del | NP_005548.2:p.Val52ProfsTer? | |
| NM_005557.4:c.154_157del MANE Select | NP_005548.2:p.Val52ProfsTer? |