Linked Data
dbSNP Id:
rs1557969525
gnomAD v2:
1-115220423-C-CTTCCTTCCTTCCTTCT
gnomAD v3:
1-114677802-C-CTTCCTTCCTTCCTTCT
gnomAD v4:
1-114677802-C-CTTCCTTCCTTCCTTCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677817_114677818insTTTCCTTCCTTCCTTC , CM000663.2:g.114677817_114677818insTTTCCTTCCTTCCTTC | GRCh38 |
| NC_000001.10:g.115220438_115220439insTTTCCTTCCTTCCTTC , CM000663.1:g.115220438_115220439insTTTCCTTCCTTCCTTC | GRCh37 |
| NC_000001.9:g.115021961_115021962insTTTCCTTCCTTCCTTC | NCBI36 |
| NG_008012.1:g.22753_22754insAGAAGGAAGGAAGGAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369538.4:c.1212+107_1212+108insAGAAGGAAGGAAGGAA | ENSP00000358551.4:n.1212+107_1212+108insA... | |
| ENST00000520113.7:c.1224+107_1224+108insAGAAGGAAGGAAGGAA MANE Select | ENSP00000430075.3:n.1224+107_1224+108insA... | |
| ENST00000637080.1:c.1007+107_1007+108insAGAAGGAAGGAAGGAA | ENSP00000489753.1:n.1007+107_1007+108insA... | |
| ENST00000639077.1:n.889+107_889+108insAGAAGGAAGGAAGGAA | ||
| ENST00000369538.3:c.1311+107_1311+108insAGAAGGAAGGAAGGAA | ENSP00000358551.3:n.1311+107_1311+108insA... | |
| ENST00000520113.6:c.1323+107_1323+108insAGAAGGAAGGAAGGAA | ENSP00000430075.2:n.1323+107_1323+108insA... | |
| NM_000036.2:c.1323+107_1323+108insAGAAGGAAGGAAGGAA | NP_000027.2:n.1323+107_1323+108insAGAAGGA... | |
| NM_001172626.1:c.1311+107_1311+108insAGAAGGAAGGAAGGAA | NP_001166097.1:n.1311+107_1311+108insAGAA... | |
| NM_000036.3:c.1224+107_1224+108insAGAAGGAAGGAAGGAA MANE Select | NP_000027.3:n.1224+107_1224+108insAGAAGGA... | |
| NM_001172626.2:c.1212+107_1212+108insAGAAGGAAGGAAGGAA | NP_001166097.2:n.1212+107_1212+108insAGAA... |