Linked Data
ClinVar Variation Id:
1218467
ClinVar RCV Id:
RCV001592309
dbSNP Id:
rs34796598
gnomAD v2:
22-24176160-AGTGG-A
gnomAD v3:
22-23833973-AGTGG-A
gnomAD v4:
22-23833973-AGTGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23833974_23833977del , CM000684.2:g.23833974_23833977del | GRCh38 |
| NC_000022.10:g.24176161_24176164del , CM000684.1:g.24176161_24176164del | GRCh37 |
| NC_000022.9:g.22506161_22506164del | NCBI36 |
| NG_009303.1:g.52012_52015del , LRG_520:g.52012_52015del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263121.12:c.981-167_981-164del | ENSP00000263121.8:n.981-167_981-164del | |
| ENST00000344921.11:c.1146-167_1146-164del | ENSP00000340883.6:n.1146-167_1146-164del | |
| ENST00000407422.8:c.1092-167_1092-164del | ENSP00000383984.3:n.1092-167_1092-164del | |
| ENST00000644036.2:c.1119-167_1119-164del MANE Select | ENSP00000494049.2:n.1119-167_1119-164del | |
| ENST00000644462.1:c.1837-167_1837-164del | ENSP00000494283.1:n.1837-167_1837-164del | |
| ENST00000645799.1:n.2441-167_2441-164del | ||
| ENST00000646723.1:n.3465-167_3465-164del | ||
| ENST00000647057.1:c.*613-167_*613-164del | ENSP00000494757.1:n.*613-167_*613-164del | |
| ENST00000263121.11:c.1119-167_1119-164del | ENSP00000263121.7:n.1119-167_1119-164del | |
| ENST00000344921.10:c.1146-167_1146-164del | ENSP00000340883.6:n.1146-167_1146-164del | |
| ENST00000407082.3:c.981-167_981-164del | ENSP00000385226.3:n.981-167_981-164del | |
| ENST00000407422.7:c.1092-167_1092-164del | ENSP00000383984.3:n.1092-167_1092-164del | |
| NM_001007468.1:c.1092-167_1092-164del | NP_001007469.1:n.1092-167_1092-164del | |
| NM_003073.3:c.1119-167_1119-164del , LRG_520t1:c.1119-167_1119-164del | NP_003064.2:n.1119-167_1119-164del | |
| XM_011530345.1:c.1173-167_1173-164del | XP_011528647.1:n.1173-167_1173-164del | |
| XM_011530346.1:c.1146-167_1146-164del | XP_011528648.1:n.1146-167_1146-164del | |
| NM_001007468.2:c.1092-167_1092-164del | NP_001007469.1:n.1092-167_1092-164del | |
| NM_001317946.1:c.1146-167_1146-164del | NP_001304875.1:n.1146-167_1146-164del | |
| NM_001362877.1:c.1173-167_1173-164del | NP_001349806.1:n.1173-167_1173-164del | |
| NM_003073.4:c.1119-167_1119-164del | NP_003064.2:n.1119-167_1119-164del | |
| NM_001007468.3:c.1092-167_1092-164del | NP_001007469.1:n.1092-167_1092-164del | |
| NM_001317946.2:c.1146-167_1146-164del | NP_001304875.1:n.1146-167_1146-164del | |
| NM_001362877.2:c.1173-167_1173-164del | NP_001349806.1:n.1173-167_1173-164del | |
| NM_003073.5:c.1119-167_1119-164del MANE Select | NP_003064.2:n.1119-167_1119-164del |