Linked Data
dbSNP Id:
rs2106202138
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232523849del , CM000664.2:g.232523849del | GRCh38 |
| NC_000002.11:g.233388559del , CM000664.1:g.233388559del | GRCh37 |
| NC_000002.10:g.233096803del | NCBI36 |
| NG_008028.1:g.2638del | |
| NG_031969.1:g.8387del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617714.2:c.1090del MANE Select | ENSP00000479745.1:p.Arg364GlyfsTer? | |
| ENST00000449534.6:c.1093del | ENSP00000473410.1:p.Arg365GlyfsTer? | |
| ENST00000617714.1:c.1090del | ENSP00000479745.1:p.Arg364GlyfsTer? | |
| NM_001195129.1:c.1090del | NP_001182058.1:p.Arg364GlyfsTer? | |
| NM_001195129.2:c.1090del MANE Select | NP_001182058.1:p.Arg364GlyfsTer? | |
| NM_001369848.1:c.1093del | NP_001356777.1:p.Arg365GlyfsTer? |