Linked Data
dbSNP Id:
rs1215371623
gnomAD v2:
10-73559394-GTGATGGAGGGCC-G
gnomAD v3:
10-71799637-GTGATGGAGGGCC-G
gnomAD v4:
10-71799637-GTGATGGAGGGCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71799640_71799651del , CM000672.2:g.71799640_71799651del | GRCh38 |
| NC_000010.10:g.73559397_73559408del , CM000672.1:g.73559397_73559408del | GRCh37 |
| NC_000010.9:g.73229403_73229414del | NCBI36 |
| NG_008835.1:g.407694_407705del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000224721.12:c.7362+11_7362+22del MANE Select | ENSP00000224721.9:n.7362+11_7362+22del | |
| ENST00000642965.1:c.1295+11_1295+22del | ENSP00000495222.1:n.1295+11_1295+22del | |
| ENST00000647092.1:c.959+11_959+22del | ENSP00000495176.1:n.959+11_959+22del | |
| ENST00000224721.10:c.7377+11_7377+22del | ENSP00000224721.8:n.7377+11_7377+22del | |
| ENST00000398788.4:c.642+11_642+22del | ENSP00000381768.3:n.642+11_642+22del | |
| ENST00000475158.1:n.898+11_898+22del | ||
| ENST00000619887.4:c.642+11_642+22del | ENSP00000478374.1:n.642+11_642+22del | |
| ENST00000622827.4:c.7362+11_7362+22del | ENSP00000483211.1:n.7362+11_7362+22del | |
| NM_001171933.1:c.642+11_642+22del | NP_001165404.1:n.642+11_642+22del | |
| NM_001171934.1:c.642+11_642+22del | NP_001165405.1:n.642+11_642+22del | |
| NM_022124.5:c.7362+11_7362+22del | NP_071407.4:n.7362+11_7362+22del | |
| XM_006717940.2:c.7557+11_7557+22del | XP_006718003.1:n.7557+11_7557+22del | |
| XM_006717942.2:c.7491+11_7491+22del | XP_006718005.1:n.7491+11_7491+22del | |
| XM_011540039.1:c.7554+11_7554+22del | XP_011538341.1:n.7554+11_7554+22del | |
| XM_011540040.1:c.7551+11_7551+22del | XP_011538342.1:n.7551+11_7551+22del | |
| XM_011540041.1:c.7497+11_7497+22del | XP_011538343.1:n.7497+11_7497+22del | |
| XM_011540042.1:c.7467+11_7467+22del | XP_011538344.1:n.7467+11_7467+22del | |
| XM_011540043.1:c.7557+11_7557+22del | XP_011538345.1:n.7557+11_7557+22del | |
| XM_011540044.1:c.7422+11_7422+22del | XP_011538346.1:n.7422+11_7422+22del | |
| XM_011540045.1:c.7557+11_7557+22del | XP_011538347.1:n.7557+11_7557+22del | |
| XM_011540046.1:c.7017+11_7017+22del | XP_011538348.1:n.7017+11_7017+22del | |
| XM_011540047.1:c.6375+11_6375+22del | XP_011538349.1:n.6375+11_6375+22del | |
| XM_011540052.1:c.3885+11_3885+22del | XP_011538354.1:n.3885+11_3885+22del | |
| NM_022124.6:c.7362+11_7362+22del MANE Select | NP_071407.4:n.7362+11_7362+22del |