Linked Data
dbSNP Id:
rs1871115487
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71943029del , CM000674.2:g.71943029del | GRCh38 |
| NC_000012.11:g.72336809del , CM000674.1:g.72336809del | GRCh37 |
| NC_000012.10:g.70623076del | NCBI36 |
| NG_008279.1:g.9184del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333850.4:c.256-1265del MANE Select | ENSP00000329093.3:n.256-1265del | |
| ENST00000333850.3:c.256-1265del | ENSP00000329093.3:n.256-1265del | |
| ENST00000546576.1:n.266-1265del | ||
| NM_173353.3:c.256-1265del | NP_775489.2:n.256-1265del | |
| XR_245894.2:n.356-1265del | ||
| XR_001748575.1:n.356-1265del | ||
| NM_173353.4:c.256-1265del MANE Select | NP_775489.2:n.256-1265del |