Linked Data
dbSNP Id:
rs1284189938
gnomAD v2:
15-66727688-A-AT
gnomAD v3:
15-66435350-A-AT
gnomAD v4:
15-66435350-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66435350_66435351insT , CM000677.2:g.66435350_66435351insT | GRCh38 |
| NC_000015.9:g.66727688_66727689insT , CM000677.1:g.66727688_66727689insT | GRCh37 |
| NC_000015.8:g.64514742_64514743insT | NCBI36 |
| NG_008305.1:g.53478_53479insT , LRG_725:g.53478_53479insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.225+113_225+114insT | ENSP00000508681.1:n.225+113_225+114insT | |
| ENST00000685172.1:c.291+113_291+114insT | ENSP00000509604.1:n.291+113_291+114insT | |
| ENST00000685763.1:c.291+113_291+114insT | ENSP00000509016.1:n.291+113_291+114insT | |
| ENST00000686347.1:c.291+113_291+114insT | ENSP00000509027.1:n.291+113_291+114insT | |
| ENST00000687191.1:n.727+113_727+114insT | ||
| ENST00000689951.1:c.291+113_291+114insT | ENSP00000509308.1:n.291+113_291+114insT | |
| ENST00000691077.1:c.291+113_291+114insT | ENSP00000509843.1:n.291+113_291+114insT | |
| ENST00000691576.1:c.291+113_291+114insT | ENSP00000510066.1:n.291+113_291+114insT | |
| ENST00000691937.1:c.291+113_291+114insT | ENSP00000508768.1:n.291+113_291+114insT | |
| ENST00000692487.1:c.291+113_291+114insT | ENSP00000509534.1:n.291+113_291+114insT | |
| ENST00000692683.1:c.225+113_225+114insT | ENSP00000508437.1:n.225+113_225+114insT | |
| ENST00000693150.1:c.225+113_225+114insT | ENSP00000510309.1:n.225+113_225+114insT | |
| ENST00000307102.10:c.291+113_291+114insT MANE Select | ENSP00000302486.5:n.291+113_291+114insT | |
| ENST00000307102.9:c.291+113_291+114insT | ENSP00000302486.4:n.291+113_291+114insT | |
| ENST00000425818.2:n.802+113_802+114insT | ||
| NM_002755.3:c.291+113_291+114insT , LRG_725t1:c.291+113_291+114insT | NP_002746.1:n.291+113_291+114insT | |
| XM_011521783.1:c.225+113_225+114insT | XP_011520085.1:n.225+113_225+114insT | |
| XM_011521783.3:c.225+113_225+114insT | XP_011520085.1:n.225+113_225+114insT | |
| XM_017022411.2:c.291+113_291+114insT | XP_016877900.1:n.291+113_291+114insT | |
| XM_017022412.1:c.225+113_225+114insT | XP_016877901.1:n.225+113_225+114insT | |
| NM_002755.4:c.291+113_291+114insT MANE Select | NP_002746.1:n.291+113_291+114insT |