Linked Data
dbSNP Id:
rs1557969561
gnomAD v2:
1-115220458-C-CCTTCCTTCCTTCCTTT
gnomAD v3:
1-114677837-C-CCTTCCTTCCTTCCTTT
gnomAD v4:
1-114677837-C-CCTTCCTTCCTTCCTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677852_114677853insTCTTCCTTCCTTCCTT , CM000663.2:g.114677852_114677853insTCTTCCTTCCTTCCTT | GRCh38 |
| NC_000001.10:g.115220473_115220474insTCTTCCTTCCTTCCTT , CM000663.1:g.115220473_115220474insTCTTCCTTCCTTCCTT | GRCh37 |
| NC_000001.9:g.115021996_115021997insTCTTCCTTCCTTCCTT | NCBI36 |
| NG_008012.1:g.22718_22719insAAAGGAAGGAAGGAAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1212+72_1212+73insAAAGGAAGGAAGGAAG | ENSP00000358551.4:n.1212+72_1212+73insAAAGGAAGGAAGGAAG | |
| ENST00000520113.7:c.1224+72_1224+73insAAAGGAAGGAAGGAAG MANE Select | ENSP00000430075.3:n.1224+72_1224+73insAAAGGAAGGAAGGAAG | |
| ENST00000637080.1:c.1007+72_1007+73insAAAGGAAGGAAGGAAG | ENSP00000489753.1:n.1007+72_1007+73insAAAGGAAGGAAGGAAG | |
| ENST00000639077.1:n.889+72_889+73insAAAGGAAGGAAGGAAG | ||
| ENST00000369538.3:c.1311+72_1311+73insAAAGGAAGGAAGGAAG | ENSP00000358551.3:n.1311+72_1311+73insAAAGGAAGGAAGGAAG | |
| ENST00000520113.6:c.1323+72_1323+73insAAAGGAAGGAAGGAAG | ENSP00000430075.2:n.1323+72_1323+73insAAAGGAAGGAAGGAAG | |
| NM_000036.2:c.1323+72_1323+73insAAAGGAAGGAAGGAAG | NP_000027.2:n.1323+72_1323+73insAAAGGAAGGAAGGAAG | |
| NM_001172626.1:c.1311+72_1311+73insAAAGGAAGGAAGGAAG | NP_001166097.1:n.1311+72_1311+73insAAAGGAAGGAAGGAAG | |
| NM_000036.3:c.1224+72_1224+73insAAAGGAAGGAAGGAAG MANE Select | NP_000027.3:n.1224+72_1224+73insAAAGGAAGGAAGGAAG | |
| NM_001172626.2:c.1212+72_1212+73insAAAGGAAGGAAGGAAG | NP_001166097.2:n.1212+72_1212+73insAAAGGAAGGAAGGAAG |