Linked Data
dbSNP Id:
rs1720991518
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55124915_55124931dup , CM000666.2:g.55124915_55124931dup | GRCh38 |
| NC_000004.11:g.55991082_55991098dup , CM000666.1:g.55991082_55991098dup | GRCh37 |
| NC_000004.10:g.55685839_55685855dup | NCBI36 |
| NG_012004.1:g.5672_5688dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.67+303_67+319dup MANE Select | ENSP00000263923.4:n.67+303_67+319dup | |
| ENST00000263923.4:c.67+303_67+319dup | ENSP00000263923.4:n.67+303_67+319dup | |
| ENST00000512566.1:n.67+303_67+319dup | ||
| NM_002253.2:c.67+303_67+319dup | NP_002244.1:n.67+303_67+319dup | |
| NM_002253.3:c.67+303_67+319dup | NP_002244.1:n.67+303_67+319dup | |
| NM_002253.4:c.67+303_67+319dup MANE Select | NP_002244.1:n.67+303_67+319dup |