Linked Data
gnomAD v4:
5-45462052-G-GAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.45462056_45462057dup , CM000667.2:g.45462056_45462057dup | GRCh38 |
| NC_000005.9:g.45462158_45462159dup , CM000667.1:g.45462158_45462159dup | GRCh37 |
| NC_000005.8:g.45497915_45497916dup | NCBI36 |
| NG_042183.1:g.239065_239066dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303230.6:c.850-47_850-46dup MANE Select | ENSP00000307342.4:n.850-47_850-46dup | |
| ENST00000637305.1:n.13-47_13-46dup | ||
| ENST00000673735.1:c.850-47_850-46dup | ENSP00000501107.1:n.850-47_850-46dup | |
| ENST00000303230.5:c.850-47_850-46dup | ENSP00000307342.4:n.850-47_850-46dup | |
| NM_021072.3:c.850-47_850-46dup | NP_066550.2:n.850-47_850-46dup | |
| NM_021072.4:c.850-47_850-46dup MANE Select | NP_066550.2:n.850-47_850-46dup |