Linked Data
dbSNP Id:
rs1559289725
gnomAD v2:
2-233388162-GGCCCCC-G
gnomAD v4:
2-232523452-GGCCCCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232523457_232523462del , CM000664.2:g.232523457_232523462del | GRCh38 |
| NC_000002.11:g.233388167_233388172del , CM000664.1:g.233388167_233388172del | GRCh37 |
| NC_000002.10:g.233096411_233096416del | NCBI36 |
| NG_008028.1:g.2246_2251del | |
| NG_031969.1:g.7995_8000del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617714.2:c.891_896del MANE Select | ENSP00000479745.1:p.Arg298_Pro299del | |
| ENST00000449534.6:c.891_896del | ENSP00000473410.1:p.Arg298_Pro299del | |
| ENST00000617714.1:c.891_896del | ENSP00000479745.1:p.Arg298_Pro299del | |
| NM_001195129.1:c.891_896del | NP_001182058.1:p.Arg298_Pro299del | |
| NM_001195129.2:c.891_896del MANE Select | NP_001182058.1:p.Arg298_Pro299del | |
| NM_001369848.1:c.891_896del | NP_001356777.1:p.Arg298_Pro299del |