Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869045_240869152dup , CM000664.2:g.240869045_240869152dup | GRCh38 |
| NC_000002.11:g.241808462_241808569dup , CM000664.1:g.241808462_241808569dup | GRCh37 |
| NC_000002.10:g.241457135_241457242dup | NCBI36 |
| NG_008005.1:g.5301_5408dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.165+15_166-18dup MANE Select | ENSP00000302620.3:n.165+15_166-18dup | |
| ENST00000307503.3:c.165+15_166-18dup | ENSP00000302620.3:n.165+15_166-18dup | |
| ENST00000472436.1:n.185+15_186-18dup | ||
| NM_000030.2:c.165+15_166-18dup | NP_000021.1:n.165+15_166-18dup | |
| XR_924060.1:n.405+1082_405+1189dup | ||
| NM_000030.3:c.165+15_166-18dup MANE Select | NP_000021.1:n.165+15_166-18dup |