Linked Data
ClinVar Variation Id:
1391192
ClinVar RCV Id:
RCV001892946
dbSNP Id:
rs753154933
ExAC:
17:12896306 CAG / C
gnomAD v2:
17-12896306-CAG-C
gnomAD v4:
17-12992989-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12992990_12992991del , CM000679.2:g.12992990_12992991del | GRCh38 |
| NC_000017.10:g.12896307_12896308del , CM000679.1:g.12896307_12896308del | GRCh37 |
| NC_000017.9:g.12837032_12837033del | NCBI36 |
| NG_015808.1:g.30074_30075del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.2308_2309del MANE Select | ENSP00000337445.4:p.Leu770ValfsTer? | |
| ENST00000338034.8:c.2308_2309del | ENSP00000337445.4:p.Leu770ValfsTer? | |
| ENST00000395962.6:c.2251_2252del | ENSP00000379291.1:p.Leu751ValfsTer? | |
| ENST00000426905.7:c.2188_2189del | ENSP00000405223.3:p.Leu730ValfsTer? | |
| ENST00000465825.5:n.2195_2196del | ||
| ENST00000480891.5:n.2137_2138del | ||
| ENST00000484122.5:n.3138_3139del | ||
| ENST00000487229.6:n.1854_1855del | ||
| ENST00000584650.5:c.1707_1708del | ||
| NM_001165962.1:c.2188_2189del | NP_001159434.1:p.Leu730ValfsTer? | |
| NM_018127.6:c.2308_2309del | NP_060597.4:p.Leu770ValfsTer? | |
| NM_173717.1:c.2305_2306del | NP_776065.1:p.Leu769ValfsTer? | |
| XM_024450850.1:c.2467_2468del | XP_024306618.1:p.Leu823ValfsTer? | |
| XM_024450851.1:c.2389_2390del | XP_024306619.1:p.Leu797ValfsTer? | |
| XM_024450852.1:c.2386_2387del | XP_024306620.1:p.Leu796ValfsTer? | |
| XM_024450853.1:c.2383_2384del | XP_024306621.1:p.Leu795ValfsTer? | |
| XM_024450854.1:c.2347_2348del | XP_024306622.1:p.Leu783ValfsTer? | |
| XM_024450855.1:c.2266_2267del | XP_024306623.1:p.Leu756ValfsTer? | |
| XM_024450856.1:c.2185_2186del | XP_024306624.1:p.Leu729ValfsTer? | |
| XM_024450857.1:c.2185_2186del | XP_024306625.1:p.Leu729ValfsTer? | |
| XM_024450858.1:c.2104_2105del | XP_024306626.1:p.Leu702ValfsTer? | |
| XM_024450859.1:c.2101_2102del | XP_024306627.1:p.Leu701ValfsTer? | |
| XM_024450860.1:c.2026_2027del | XP_024306628.1:p.Leu676ValfsTer? | |
| XM_024450861.1:c.2026_2027del | XP_024306629.1:p.Leu676ValfsTer? | |
| XM_024450862.1:c.2023_2024del | XP_024306630.1:p.Leu675ValfsTer? | |
| NM_018127.7:c.2308_2309del MANE Select | NP_060597.4:p.Leu770ValfsTer? | |
| NM_001165962.2:c.2188_2189del | NP_001159434.1:p.Leu730ValfsTer? | |
| NM_173717.2:c.2305_2306del | NP_776065.1:p.Leu769ValfsTer? |