Linked Data
dbSNP Id:
rs1891082122
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102922685_102922689dup , CM000676.2:g.102922685_102922689dup | GRCh38 |
| NC_000014.8:g.103389022_103389026dup , CM000676.1:g.103389022_103389026dup | GRCh37 |
| NC_000014.7:g.102458775_102458779dup | NCBI36 |
| NG_008276.2:g.5030_5034dup , LRG_642:g.5030_5034dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299155.10:c.-4_1dup MANE Select | ENSP00000299155.6:p.Met1ThrfsTer18 | |
| ENST00000299155.9:c.-4_1dup | ENSP00000299155.5:p.Met1ThrfsTer18 | |
| NM_030943.3:c.-4_1dup , LRG_642t1:c.-4_1dup | NP_112205.2:p.Met1ThrfsTer18 | |
| XM_011537202.1:c.-185_-181dup | XP_011535504.1:n.-185_-181dup | |
| XM_011537202.3:c.-185_-181dup | XP_011535504.1:n.-185_-181dup | |
| XM_024449714.1:c.93_97dup | XP_024305482.1:p.Met33ThrfsTer18 | |
| NM_030943.4:c.-4_1dup MANE Select | NP_112205.2:p.Met1ThrfsTer18 |