UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
dbSNP Id:
rs1557969503
gnomAD v3:
1-114677799-C-CCTTCCT
gnomAD v4:
1-114677799-C-CCTTCCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677799_114677800insCTTCCT , CM000663.2:g.114677799_114677800insCTTCCT | GRCh38 |
| NC_000001.10:g.115220420_115220421insCTTCCT , CM000663.1:g.115220420_115220421insCTTCCT | GRCh37 |
| NC_000001.9:g.115021943_115021944insCTTCCT | NCBI36 |
| NG_008012.1:g.22756_22757insAGGAAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369538.4:c.1212+110_1212+111insAGGAAG | ENSP00000358551.4:n.1212+110_1212+111insA... | |
| ENST00000520113.7:c.1224+110_1224+111insAGGAAG MANE Select | ENSP00000430075.3:n.1224+110_1224+111insA... | |
| ENST00000637080.1:c.1007+110_1007+111insAGGAAG | ENSP00000489753.1:n.1007+110_1007+111insA... | |
| ENST00000639077.1:n.889+110_889+111insAGGAAG | ||
| ENST00000369538.3:c.1311+110_1311+111insAGGAAG | ENSP00000358551.3:n.1311+110_1311+111insA... | |
| ENST00000520113.6:c.1323+110_1323+111insAGGAAG | ENSP00000430075.2:n.1323+110_1323+111insA... | |
| NM_000036.2:c.1323+110_1323+111insAGGAAG | NP_000027.2:n.1323+110_1323+111insAGGAAG | |
| NM_001172626.1:c.1311+110_1311+111insAGGAAG | NP_001166097.1:n.1311+110_1311+111insAGGA... | |
| NM_000036.3:c.1224+110_1224+111insAGGAAG MANE Select | NP_000027.3:n.1224+110_1224+111insAGGAAG | |
| NM_001172626.2:c.1212+110_1212+111insAGGAAG | NP_001166097.2:n.1212+110_1212+111insAGGA... |