Linked Data
dbSNP Id:
rs1165988320
gnomAD v3:
8-64604761-TAGTCCCCGGTCTCTGAACTGAG-T
gnomAD v4:
8-64604761-TAGTCCCCGGTCTCTGAACTGAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64604766_64604787del , CM000670.2:g.64604766_64604787del | GRCh38 |
| NC_000008.10:g.65517323_65517344del , CM000670.1:g.65517323_65517344del | GRCh37 |
| NC_000008.9:g.65679877_65679898del | NCBI36 |
| NG_008338.1:g.199009_199030del | |
| NG_008338.2:g.199009_199030del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.1132_1153del MANE Select | ENSP00000310721.3:p.Leu378ThrfsTer9 | |
| ENST00000310193.3:c.1132_1153del | ENSP00000310721.3:p.Leu378ThrfsTer9 | |
| ENST00000523954.1:n.406_427del | ||
| NM_004820.3:c.1132_1153del | NP_004811.1:p.Leu378ThrfsTer9 | |
| NM_001324112.1:c.1132_1153del | NP_001311041.1:p.Leu378ThrfsTer9 | |
| NM_004820.4:c.1132_1153del | NP_004811.1:p.Leu378ThrfsTer9 | |
| XM_017014002.1:c.1198_1219del | XP_016869491.1:p.Leu400ThrfsTer9 | |
| NM_004820.5:c.1132_1153del MANE Select | NP_004811.1:p.Leu378ThrfsTer9 | |
| NM_001324112.2:c.1132_1153del | NP_001311041.1:p.Leu378ThrfsTer9 |