Linked Data
dbSNP Id:
rs1306982955
gnomAD v2:
10-73122377-CA-C
gnomAD v3:
10-71362620-CA-C
gnomAD v4:
10-71362620-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71362622del , CM000672.2:g.71362622del | GRCh38 |
| NC_000010.10:g.73122379del , CM000672.1:g.73122379del | GRCh37 |
| NC_000010.9:g.72792385del | NCBI36 |
| NG_017066.1:g.48370del | |
| NG_017066.2:g.48364del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697843.1:n.2918del | ||
| ENST00000373189.6:c.*14del MANE Select | ENSP00000362285.5:n.*14del | |
| ENST00000479577.2:c.*14del | ENSP00000493995.1:n.*14del | |
| ENST00000642198.1:c.*1014del | ENSP00000494827.1:n.*1014del | |
| ENST00000642772.1:c.*94+6379del | ENSP00000495041.1:n.*94+6379del | |
| ENST00000643042.1:c.1063del | ENSP00000496674.1:n.1063del | |
| ENST00000643619.1:c.*1025del | ENSP00000494378.1:n.*1025del | |
| ENST00000643752.1:c.*768del | ENSP00000495000.1:n.*768del | |
| ENST00000644088.1:c.*763del | ENSP00000494066.1:n.*763del | |
| ENST00000644591.1:c.*768del | ENSP00000496664.1:n.*768del | |
| ENST00000644895.1:c.*99+6379del | ENSP00000493872.1:n.*99+6379del | |
| ENST00000645345.1:c.*1014del | ENSP00000495859.1:n.*1014del | |
| ENST00000647524.1:c.*1025del | ENSP00000495077.1:n.*1025del | |
| ENST00000373189.5:c.*14del | ENSP00000362285.5:n.*14del | |
| NM_001174098.1:c.*671del | NP_001167569.1:n.*671del | |
| NM_018344.5:c.*14del | NP_060814.4:n.*14del | |
| NR_033413.1:n.1416del | ||
| NR_033414.1:n.1189del | ||
| XM_006717910.2:c.*14del | XP_006717973.1:n.*14del | |
| NM_001363518.1:c.*14del | NP_001350447.1:n.*14del | |
| XM_017016377.2:c.*14del | XP_016871866.1:n.*14del | |
| XM_017016378.2:c.*14del | XP_016871867.1:n.*14del | |
| NM_018344.6:c.*14del MANE Select | NP_060814.4:n.*14del | |
| NM_001174098.2:c.*671del | NP_001167569.1:n.*671del | |
| NM_001363518.2:c.*14del | NP_001350447.1:n.*14del | |
| NR_033413.2:n.1410del | ||
| NR_033414.2:n.1183del |