Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96143625_96143626insAAAAAA , CM000664.2:g.96143625_96143626insAAAAAA | GRCh38 |
| NC_000002.11:g.96809364_96809365insAAAAAA , CM000664.1:g.96809364_96809365insAAAAAA | GRCh37 |
| NC_000002.10:g.96173091_96173092insAAAAAA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288943.5:c.*197_*198insTTTTTT MANE Select | ENSP00000288943.4:n.*197_*198insTTTTTT | |
| ENST00000288943.4:c.*197_*198insTTTTTT | ENSP00000288943.4:n.*197_*198insTTTTTT | |
| NM_004418.3:c.*197_*198insTTTTTT | NP_004409.1:n.*197_*198insTTTTTT | |
| XM_017003546.1:c.*197_*198insTTTTTT | XP_016859035.1:n.*197_*198insTTTTTT | |
| NM_004418.4:c.*197_*198insTTTTTT MANE Select | NP_004409.1:n.*197_*198insTTTTTT |