Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868899_240868900dup , CM000664.2:g.240868899_240868900dup | GRCh38 |
| NC_000002.11:g.241808316_241808317dup , CM000664.1:g.241808316_241808317dup | GRCh37 |
| NC_000002.10:g.241456989_241456990dup | NCBI36 |
| NG_008005.1:g.5155_5156dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.34_35dup MANE Select | ENSP00000302620.3:p.Ala13ArgfsTer? | |
| ENST00000307503.3:c.34_35dup | ENSP00000302620.3:p.Ala13ArgfsTer? | |
| ENST00000472436.1:n.54_55dup | ||
| NM_000030.2:c.34_35dup | NP_000021.1:p.Ala13ArgfsTer? | |
| XR_924060.1:n.405+1333_405+1334dup | ||
| NM_000030.3:c.34_35dup MANE Select | NP_000021.1:p.Ala13ArgfsTer? |