Linked Data
dbSNP Id:
rs1255388961
gnomAD v2:
1-216497898-AGGAT-A
gnomAD v3:
1-216324556-AGGAT-A
gnomAD v4:
1-216324556-AGGAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216324557_216324560del , CM000663.2:g.216324557_216324560del | GRCh38 |
| NC_000001.10:g.216497899_216497902del , CM000663.1:g.216497899_216497902del | GRCh37 |
| NC_000001.9:g.214564522_214564525del | NCBI36 |
| NG_009497.1:g.103837_103840del | |
| NG_009497.2:g.103889_103892del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.1144-208_1144-205del MANE Select | ENSP00000305941.3:n.1144-208_1144-205del | |
| ENST00000674083.1:c.1144-208_1144-205del | ENSP00000501296.1:n.1144-208_1144-205del | |
| ENST00000307340.7:c.1144-208_1144-205del | ENSP00000305941.3:n.1144-208_1144-205del | |
| ENST00000366942.3:c.1144-208_1144-205del | ENSP00000355909.3:n.1144-208_1144-205del | |
| NM_007123.5:c.1144-208_1144-205del | NP_009054.5:n.1144-208_1144-205del | |
| NM_206933.2:c.1144-208_1144-205del | NP_996816.2:n.1144-208_1144-205del | |
| NM_206933.3:c.1144-208_1144-205del | NP_996816.2:n.1144-208_1144-205del | |
| NM_007123.6:c.1144-208_1144-205del | NP_009054.6:n.1144-208_1144-205del | |
| NM_206933.4:c.1144-208_1144-205del MANE Select | NP_996816.3:n.1144-208_1144-205del |