Linked Data
dbSNP Id:
rs1817903416
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118111509_118111510del , CM000670.2:g.118111509_118111510del | GRCh38 |
| NC_000008.10:g.119123748_119123749del , CM000670.1:g.119123748_119123749del | GRCh37 |
| NC_000008.9:g.119192929_119192930del | NCBI36 |
| NG_007455.2:g.5310_5311del , LRG_493:g.5310_5311del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.-464_-463del MANE Select | ENSP00000367446.3:n.-464_-463del | |
| ENST00000378204.6:c.-464_-463del | ENSP00000367446.2:n.-464_-463del | |
| NM_000127.2:c.-464_-463del , LRG_493t1:c.-464_-463del | NP_000118.2:n.-464_-463del | |
| NM_000127.3:c.-464_-463del MANE Select | NP_000118.2:n.-464_-463del |