Linked Data
gnomAD v4:
5-135028934-A-AAGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028934_135028935insAGGG , CM000667.2:g.135028934_135028935insAGGG | GRCh38 |
| NC_000005.9:g.134364624_134364625insAGGG , CM000667.1:g.134364624_134364625insAGGG | GRCh37 |
| NC_000005.8:g.134392523_134392524insAGGG | NCBI36 |
| NG_012114.1:g.10340_10341insCCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.789_790insCCCT MANE Select | ENSP00000265340.6:p.Tyr264ProfsTer? | |
| ENST00000265340.11:c.789_790insCCCT | ENSP00000265340.6:p.Tyr264ProfsTer? | |
| ENST00000506438.5:c.789_790insCCCT | ENSP00000427542.1:p.Tyr264ProfsTer? | |
| NM_002653.4:c.789_790insCCCT | NP_002644.4:p.Tyr264ProfsTer? | |
| NM_002653.5:c.789_790insCCCT MANE Select | NP_002644.4:p.Tyr264ProfsTer? |