Linked Data
dbSNP Id:
rs1333204435
MyVariant Identifiers:
chr1:g.115220416_115220417insTCCTTCCT (hg19)
chr1:g.114677795_114677796insTCCTTCCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677798_114677799insTTCCTTCC , CM000663.2:g.114677798_114677799insTTCCTTCC | GRCh38 |
| NC_000001.10:g.115220419_115220420insTTCCTTCC , CM000663.1:g.115220419_115220420insTTCCTTCC | GRCh37 |
| NC_000001.9:g.115021942_115021943insTTCCTTCC | NCBI36 |
| NG_008012.1:g.22760_22761insAGGAAGGA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369538.4:c.1212+114_1212+115insAGGAAGGA | ENSP00000358551.4:n.1212+114_1212+115insA... | |
| ENST00000520113.7:c.1224+114_1224+115insAGGAAGGA MANE Select | ENSP00000430075.3:n.1224+114_1224+115insA... | |
| ENST00000637080.1:c.1007+114_1007+115insAGGAAGGA | ENSP00000489753.1:n.1007+114_1007+115insA... | |
| ENST00000639077.1:n.889+114_889+115insAGGAAGGA | ||
| ENST00000369538.3:c.1311+114_1311+115insAGGAAGGA | ENSP00000358551.3:n.1311+114_1311+115insA... | |
| ENST00000520113.6:c.1323+114_1323+115insAGGAAGGA | ENSP00000430075.2:n.1323+114_1323+115insA... | |
| NM_000036.2:c.1323+114_1323+115insAGGAAGGA | NP_000027.2:n.1323+114_1323+115insAGGAAGG... | |
| NM_001172626.1:c.1311+114_1311+115insAGGAAGGA | NP_001166097.1:n.1311+114_1311+115insAGGA... | |
| NM_000036.3:c.1224+114_1224+115insAGGAAGGA MANE Select | NP_000027.3:n.1224+114_1224+115insAGGAAGG... | |
| NM_001172626.2:c.1212+114_1212+115insAGGAAGGA | NP_001166097.2:n.1212+114_1212+115insAGGA... |