Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869368_240869369dup , CM000664.2:g.240869368_240869369dup | GRCh38 |
| NC_000002.11:g.241808785_241808786dup , CM000664.1:g.241808785_241808786dup | GRCh37 |
| NC_000002.10:g.241457458_241457459dup | NCBI36 |
| NG_008005.1:g.5624_5625dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.358+6_358+7dup MANE Select | ENSP00000302620.3:n.358+6_358+7dup | |
| ENST00000307503.3:c.358+6_358+7dup | ENSP00000302620.3:n.358+6_358+7dup | |
| ENST00000472436.1:n.378+6_378+7dup | ||
| NM_000030.2:c.358+6_358+7dup | NP_000021.1:n.358+6_358+7dup | |
| XR_924060.1:n.405+865_405+866dup | ||
| NM_000030.3:c.358+6_358+7dup MANE Select | NP_000021.1:n.358+6_358+7dup |