Linked Data
dbSNP Id:
rs2147321927
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25010167_25010170del , CM000685.2:g.25010167_25010170del | GRCh38 |
| NC_000023.10:g.25028284_25028287del , CM000685.1:g.25028284_25028287del | GRCh37 |
| NC_000023.9:g.24938205_24938208del | NCBI36 |
| NG_008281.1:g.10780_10783del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.1119+91_1119+94del MANE Select | ENSP00000368332.4:n.1119+91_1119+94del | |
| ENST00000379044.4:c.1119+91_1119+94del | ENSP00000368332.4:n.1119+91_1119+94del | |
| NM_139058.2:c.1119+91_1119+94del | NP_620689.1:n.1119+91_1119+94del | |
| NM_139058.3:c.1119+91_1119+94del MANE Select | NP_620689.1:n.1119+91_1119+94del |