Linked Data
gnomAD v4:
5-135028936-G-GGGGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028938_135028939insGCGG , CM000667.2:g.135028938_135028939insGCGG | GRCh38 |
| NC_000005.9:g.134364628_134364629insGCGG , CM000667.1:g.134364628_134364629insGCGG | GRCh37 |
| NC_000005.8:g.134392527_134392528insGCGG | NCBI36 |
| NG_012114.1:g.10338_10339insGCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.787_788insGCCC MANE Select | ENSP00000265340.6:p.Pro263ArgfsTer? | |
| ENST00000265340.11:c.787_788insGCCC | ENSP00000265340.6:p.Pro263ArgfsTer? | |
| ENST00000506438.5:c.787_788insGCCC | ENSP00000427542.1:p.Pro263ArgfsTer? | |
| NM_002653.4:c.787_788insGCCC | NP_002644.4:p.Pro263ArgfsTer? | |
| NM_002653.5:c.787_788insGCCC MANE Select | NP_002644.4:p.Pro263ArgfsTer? |