gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869151dup , CM000664.2:g.240869151dup | GRCh38 |
| NC_000002.11:g.241808568dup , CM000664.1:g.241808568dup | GRCh37 |
| NC_000002.10:g.241457241dup | NCBI36 |
| NG_008005.1:g.5407dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.166-19dup MANE Select | ENSP00000302620.3:n.166-19dup | |
| ENST00000307503.3:c.166-19dup | ENSP00000302620.3:n.166-19dup | |
| ENST00000472436.1:n.186-19dup | ||
| NM_000030.2:c.166-19dup | NP_000021.1:n.166-19dup | |
| XR_924060.1:n.405+1084dup | ||
| NM_000030.3:c.166-19dup MANE Select | NP_000021.1:n.166-19dup |