Linked Data
dbSNP Id:
rs1880073964
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91107255_91107264del , CM000674.2:g.91107255_91107264del | GRCh38 |
| NC_000012.11:g.91501032_91501041del , CM000674.1:g.91501032_91501041del | GRCh37 |
| NC_000012.10:g.90025163_90025172del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266718.5:c.862+855_862+864del MANE Select | ENSP00000266718.4:n.862+855_862+864del | |
| ENST00000266718.4:c.862+855_862+864del | ENSP00000266718.4:n.862+855_862+864del | |
| ENST00000546642.1:n.612+855_612+864del | ||
| ENST00000548071.1:n.255+855_255+864del | ||
| NM_002345.3:c.862+855_862+864del | NP_002336.1:n.862+855_862+864del | |
| NM_002345.4:c.862+855_862+864del MANE Select | NP_002336.1:n.862+855_862+864del |