Linked Data
dbSNP Id:
rs1801098767
gnomAD v3:
8-23212020-G-GTTCTTCAAAATCAAAA
gnomAD v4:
8-23212020-G-GTTCTTCAAAATCAAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23212020_23212021insTTCTTCAAAATCAAAA , CM000670.2:g.23212020_23212021insTTCTTCAAAATCAAAA | GRCh38 |
| NC_000008.10:g.23069533_23069534insTTCTTCAAAATCAAAA , CM000670.1:g.23069533_23069534insTTCTTCAAAATCAAAA | GRCh37 |
| NC_000008.9:g.23125478_23125479insTTCTTCAAAATCAAAA | NCBI36 |
| NG_032107.1:g.18147_18148insTTTTGATTTTGAAGAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.403+95_403+96insTTTTGATTTTGAAGAA MANE Select | ENSP00000221132.3:n.403+95_403+96insTTTTGATTTTGAAGAA | |
| ENST00000221132.7:c.403+95_403+96insTTTTGATTTTGAAGAA | ENSP00000221132.3:n.403+95_403+96insTTTTGATTTTGAAGAA | |
| ENST00000524158.5:c.-204+95_-204+96insTTTTGATTTTGAAGAA | ENSP00000428884.1:n.-204+95_-204+96insTTTTGATTTTGAAGAA | |
| ENST00000613472.1:c.32-9362_32-9361insTTTTGATTTTGAAGAA | ENSP00000480778.1:n.32-9362_32-9361insTTTTGATTTTGAAGAA | |
| NM_003844.3:c.403+95_403+96insTTTTGATTTTGAAGAA | NP_003835.3:n.403+95_403+96insTTTTGATTTTGAAGAA | |
| NM_003844.4:c.403+95_403+96insTTTTGATTTTGAAGAA MANE Select | NP_003835.3:n.403+95_403+96insTTTTGATTTTGAAGAA |