Linked Data
gnomAD v4:
5-135028702-C-CCCCGCGTGCGTCCTCCGCGCCCGCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028709_135028733dup , CM000667.2:g.135028709_135028733dup | GRCh38 |
| NC_000005.9:g.134364399_134364423dup , CM000667.1:g.134364399_134364423dup | GRCh37 |
| NC_000005.8:g.134392298_134392322dup | NCBI36 |
| NG_012114.1:g.10548_10572dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*52_*76dup MANE Select | ENSP00000265340.6:n.*52_*76dup | |
| ENST00000265340.11:c.*52_*76dup | ENSP00000265340.6:n.*52_*76dup | |
| ENST00000506438.5:c.*52_*76dup | ENSP00000427542.1:n.*52_*76dup | |
| NM_002653.4:c.*52_*76dup | NP_002644.4:n.*52_*76dup | |
| NM_002653.5:c.*52_*76dup MANE Select | NP_002644.4:n.*52_*76dup |