Linked Data
dbSNP Id:
rs2069950176
gnomAD v3:
16-11281323-TGGGCTGTGAGTCAG-T
gnomAD v4:
16-11281323-TGGGCTGTGAGTCAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11281328_11281341del , CM000678.2:g.11281328_11281341del | GRCh38 |
| NC_000016.9:g.11375185_11375198del , CM000678.1:g.11375185_11375198del | GRCh37 |
| NC_000016.8:g.11282686_11282699del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649869.1:n.152+31550_152+31563del (RMI2) | ||
| ENST00000312511.3:c.-99_-86del (PRM1) | ENSP00000310515.3:n.-99_-86del | |
| ENST00000572173.1:c.-515-13888_-515-13875del (RMI2) | ENSP00000461206.1:n.-515-13888_-515-13875del | |
| ENST00000573910.1:n.160+31550_160+31563del (RMI2) | ||
| XR_933070.1:n.733+31550_733+31563del | ||
| XR_933070.3:n.876+31550_876+31563del |