Linked Data
dbSNP Id:
rs1860990527
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110578636_110578638del , CM000672.2:g.110578636_110578638del | GRCh38 |
| NC_000010.10:g.112338394_112338396del , CM000672.1:g.112338394_112338396del | GRCh37 |
| NC_000010.9:g.112328384_112328386del | NCBI36 |
| NG_012217.1:g.15946_15948del , LRG_774:g.15946_15948del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.492_494del | ||
| ENST00000687823.1:n.273_275del | ||
| ENST00000689932.1:n.2422_2424del | ||
| ENST00000691297.1:n.492_494del | ||
| ENST00000691527.1:n.1162_1164del | ||
| ENST00000692792.1:n.478_480del | ||
| ENST00000361804.5:c.359_361del MANE Select | ENSP00000354720.5:p.Asp120del | |
| ENST00000361804.4:c.359_361del | ENSP00000354720.4:p.Asp120del | |
| ENST00000462899.1:n.505_507del | ||
| NM_005445.3:c.359_361del , LRG_774t1:c.359_361del | NP_005436.1:p.Asp120del | |
| NM_005445.4:c.359_361del MANE Select | NP_005436.1:p.Asp120del |