Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154837596dup , CM000685.2:g.154837596dup | GRCh38 |
| NC_000023.10:g.154065871dup , CM000685.1:g.154065871dup | GRCh37 |
| NC_000023.9:g.153719065dup | NCBI36 |
| NG_011403.1:g.190130dup | |
| NG_033065.1:g.2069dup | |
| NG_011403.2:g.190130dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.*3dup MANE Select | NP_000123.1:n.*3dup |
| ENST00000360256.9:c.*3dup MANE Select | ENSP00000353393.4:n.*3dup |
| NM_000132.3:c.*3dup | NP_000123.1:n.*3dup |
| NM_019863.2:c.*3dup | NP_063916.1:n.*3dup |
| NM_019863.3:c.*3dup | NP_063916.1:n.*3dup |
| ENST00000330287.10:c.*3dup | ENSP00000327895.6:n.*3dup |
| ENST00000360256.8:c.*3dup | ENSP00000353393.4:n.*3dup |
| ENST00000644698.1:c.*3dup | ENSP00000495706.1:n.*3dup |
| XM_011531126.1:c.*3dup | XP_011529428.1:n.*3dup |