Linked Data
dbSNP Id:
rs1949288454
gnomAD v3:
11-118659650-ATAGCCGGAGGAAGCGCCCTC-A
gnomAD v4:
11-118659650-ATAGCCGGAGGAAGCGCCCTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118659651_118659670del , CM000673.2:g.118659651_118659670del | GRCh38 |
| NC_000011.9:g.118530360_118530379del , CM000673.1:g.118530360_118530379del | GRCh37 |
| NC_000011.8:g.118035570_118035589del | NCBI36 |
| NG_023321.1:g.25003_25022del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264029.9:c.1320+77_1320+96del MANE Select | ENSP00000264029.5:n.1320+77_1320+96del | |
| ENST00000264029.8:c.1320+77_1320+96del | ENSP00000264029.5:n.1320+77_1320+96del | |
| ENST00000397925.2:c.1227+77_1227+96del | ENSP00000381020.2:n.1227+77_1227+96del | |
| ENST00000613915.4:c.*1097+77_*1097+96del | ENSP00000477923.1:n.*1097+77_*1097+96del | |
| NM_001301065.1:c.1227+77_1227+96del | NP_001287994.1:n.1227+77_1227+96del | |
| NM_007180.2:c.1320+77_1320+96del | NP_009111.2:n.1320+77_1320+96del | |
| XM_011542564.1:c.897+77_897+96del | XP_011540866.1:n.897+77_897+96del | |
| NM_001301065.2:c.1227+77_1227+96del | NP_001287994.1:n.1227+77_1227+96del | |
| NM_007180.3:c.1320+77_1320+96del MANE Select | NP_009111.2:n.1320+77_1320+96del |