Linked Data
dbSNP Id:
rs1892452010
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23421015_23421017dup , CM000676.2:g.23421015_23421017dup | GRCh38 |
| NC_000014.8:g.23890224_23890226dup , CM000676.1:g.23890224_23890226dup | GRCh37 |
| NC_000014.7:g.22960064_22960066dup | NCBI36 |
| NG_007884.1:g.19646_19648dup , LRG_384:g.19646_19648dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3278_3280dup MANE Select | ENSP00000347507.3:p.Arg1093_Ile1094insArg | |
| ENST00000355349.3:c.3278_3280dup | ENSP00000347507.3:p.Arg1093_Ile1094insArg | |
| NM_000257.3:c.3278_3280dup | NP_000248.2:p.Arg1093_Ile1094insArg | |
| XR_245686.3:n.3386_3388dup | ||
| XM_017021340.1:c.3278_3280dup | XP_016876829.1:p.Arg1093_Ile1094insArg | |
| NM_000257.4:c.3278_3280dup MANE Select | NP_000248.2:p.Arg1093_Ile1094insArg |