Linked Data
dbSNP Id:
rs781572269
gnomAD v2:
16-31196295-GGTGGTGGCA-G
gnomAD v4:
16-31184974-GGTGGTGGCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31184983_31184991del , CM000678.2:g.31184983_31184991del | GRCh38 |
| NC_000016.9:g.31196304_31196312del , CM000678.1:g.31196304_31196312del | GRCh37 |
| NC_000016.8:g.31103805_31103813del | NCBI36 |
| NG_012889.2:g.9852_9860del , LRG_655:g.9852_9860del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254108.12:c.568_576del MANE Select | ENSP00000254108.8:p.Ser190_Gly192del | |
| ENST00000254108.11:c.568_576del | ENSP00000254108.7:p.Ser190_Gly192del | |
| ENST00000380244.7:c.565_573del | ENSP00000369594.3:p.Ser189_Gly191del | |
| ENST00000487509.6:n.633_641del | ||
| ENST00000566605.5:c.568_576del | ENSP00000455073.1:p.Ser190_Gly192del | |
| ENST00000568685.1:c.568_576del | ENSP00000455282.1:p.Ser190_Gly192del | |
| NM_001170634.1:c.565_573del | NP_001164105.1:p.Ser189_Gly191del | |
| NM_001170937.1:c.556_564del | NP_001164408.1:p.Ser186_Gly188del | |
| NM_004960.3:c.568_576del , LRG_655t1:c.568_576del | NP_004951.1:p.Ser190_Gly192del | |
| NR_028388.2:n.673_681del | ||
| XM_005255233.3:c.-13_-5del | XP_005255290.1:n.-13_-5del | |
| XM_011545781.1:c.562_570del | XP_011544083.1:p.Ser188_Gly190del | |
| XM_011545782.1:c.-13_-5del | XP_011544084.1:n.-13_-5del | |
| XM_005255233.5:c.-13_-5del | XP_005255290.1:n.-13_-5del | |
| XM_011545782.2:c.-13_-5del | XP_011544084.1:n.-13_-5del | |
| XM_024450221.1:c.559_567del | XP_024305989.1:p.Ser187_Gly189del | |
| NM_004960.4:c.568_576del MANE Select | NP_004951.1:p.Ser190_Gly192del |