Linked Data
ClinVar Variation Id:
337393
ClinVar RCV Id:
RCV000302483
dbSNP Id:
rs533135276
gnomAD v2:
2-88856889-CAG-C
gnomAD v3:
2-88557371-CAG-C
gnomAD v4:
2-88557371-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88557372_88557373del , CM000664.2:g.88557372_88557373del | GRCh38 |
| NC_000002.11:g.88856890_88856891del , CM000664.1:g.88856890_88856891del | GRCh37 |
| NC_000002.10:g.88638005_88638006del | NCBI36 |
| NG_016424.1:g.75204_75205del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652666.2:n.2984_2985del | ||
| ENST00000682103.1:c.1209_1210del | ||
| ENST00000682276.1:n.3159_3160del | ||
| ENST00000682468.1:n.1252_1253del | ||
| ENST00000682603.1:c.781_782del | ||
| ENST00000682844.1:c.1750_1751del | ||
| ENST00000682892.1:c.*363_*364del | ENSP00000507214.1:n.*363_*364del | |
| ENST00000682952.1:n.3353_3354del | ||
| ENST00000683663.1:n.3700_3701del | ||
| ENST00000684455.1:c.2927_2928del | ||
| ENST00000684642.1:c.2943_2944del | ENSP00000507355.1:n.2943_2944del | |
| ENST00000684740.1:n.3892_3893del | ||
| ENST00000303236.9:c.*363_*364del MANE Select | ENSP00000307235.3:n.*363_*364del | |
| ENST00000652099.1:c.3908_3909del | ||
| ENST00000652736.1:n.3590_3591del | ||
| ENST00000303236.7:c.*363_*364del | ENSP00000307235.3:n.*363_*364del | |
| ENST00000419748.5:c.*363_*364del | ENSP00000408325.1:n.*363_*364del | |
| NM_001313915.1:c.*363_*364del | NP_001300844.1:n.*363_*364del | |
| NM_004836.5:c.*363_*364del | NP_004827.4:n.*363_*364del | |
| NM_004836.6:c.*363_*364del | NP_004827.4:n.*363_*364del | |
| NR_110236.1:n.651-17142_651-17141del | ||
| XM_005264649.3:c.*363_*364del | XP_005264706.1:n.*363_*364del | |
| XM_017005376.2:c.*363_*364del | XP_016860865.1:n.*363_*364del | |
| NM_004836.7:c.*363_*364del MANE Select | NP_004827.4:n.*363_*364del | |
| NM_001313915.2:c.*363_*364del | NP_001300844.1:n.*363_*364del |