Linked Data
gnomAD v4:
5-135028463-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028466dup , CM000667.2:g.135028466dup | GRCh38 |
| NC_000005.9:g.134364156dup , CM000667.1:g.134364156dup | GRCh37 |
| NC_000005.8:g.134392055dup | NCBI36 |
| NG_012114.1:g.10811dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*315dup MANE Select | ENSP00000265340.6:n.*315dup | |
| ENST00000265340.11:c.*315dup | ENSP00000265340.6:n.*315dup | |
| NM_002653.4:c.*315dup | NP_002644.4:n.*315dup | |
| NM_002653.5:c.*315dup MANE Select | NP_002644.4:n.*315dup |