Linked Data
dbSNP Id:
rs2145983634
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32475093_32475095del , CM000684.2:g.32475093_32475095del | GRCh38 |
| NC_000022.10:g.32871080_32871082del , CM000684.1:g.32871080_32871082del | GRCh37 |
| NC_000022.9:g.31201080_31201082del | NCBI36 |
| NG_016001.1:g.5374_5376del | |
| NG_016001.2:g.5374_5376del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.12:c.91_93del MANE Select | ENSP00000266087.7:p.Arg31del | |
| ENST00000266087.11:c.91_93del | ENSP00000266087.7:p.Arg31del | |
| ENST00000420700.5:c.91_93del | ENSP00000406155.1:p.Arg31del | |
| ENST00000425028.5:c.91_93del | ENSP00000395823.1:p.Arg31del | |
| ENST00000492535.1:n.79_81del | ||
| NM_012179.3:c.91_93del | NP_036311.3:p.Arg31del | |
| XM_011530106.1:c.-83_-81del | XP_011528408.1:n.-83_-81del | |
| XM_024452207.1:c.-100_-98del | XP_024307975.1:n.-100_-98del | |
| NM_012179.4:c.91_93del MANE Select | NP_036311.3:p.Arg31del |