Linked Data
dbSNP Id:
rs769881365
ExAC:
10:54531183 CAG / C
gnomAD v2:
10-54531183-CAG-C
gnomAD v3:
10-52771423-CAG-C
gnomAD v4:
10-52771423-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.52771427_52771428del , CM000672.2:g.52771427_52771428del | GRCh38 |
| NC_000010.10:g.54531187_54531188del , CM000672.1:g.54531187_54531188del | GRCh37 |
| NC_000010.9:g.54201193_54201194del | NCBI36 |
| NG_008196.1:g.5276_5277del , LRG_154:g.5276_5277del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000674931.1:c.187+24_187+25del MANE Select | ENSP00000502789.1:n.187+24_187+25del | |
| ENST00000675947.1:c.187+24_187+25del | ENSP00000502615.1:n.187+24_187+25del | |
| ENST00000373968.3:c.187+24_187+25del | ENSP00000363079.3:n.187+24_187+25del | |
| NM_000242.2:c.187+24_187+25del , LRG_154t1:c.187+24_187+25del | NP_000233.1:n.187+24_187+25del | |
| XM_006717861.2:c.187+24_187+25del | XP_006717924.1:n.187+24_187+25del | |
| XM_011539816.1:c.187+24_187+25del | XP_011538118.1:n.187+24_187+25del | |
| XM_006717861.4:c.187+24_187+25del | XP_006717924.1:n.187+24_187+25del | |
| XM_011539816.3:c.187+24_187+25del | XP_011538118.1:n.187+24_187+25del | |
| NM_000242.3:c.187+24_187+25del | NP_000233.1:n.187+24_187+25del | |
| NM_001378373.1:c.187+24_187+25del MANE Select | NP_001365302.1:n.187+24_187+25del | |
| NM_001378374.1:c.187+24_187+25del | NP_001365303.1:n.187+24_187+25del |