Linked Data
dbSNP Id:
rs1374781642
gnomAD v2:
5-125880755-CAG-C
gnomAD v3:
5-126545063-CAG-C
gnomAD v4:
5-126545063-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126545065_126545066del , CM000667.2:g.126545065_126545066del | GRCh38 |
| NC_000005.9:g.125880757_125880758del , CM000667.1:g.125880757_125880758del | GRCh37 |
| NC_000005.8:g.125908656_125908657del | NCBI36 |
| NG_008600.2:g.55326_55327del | |
| NG_008600.3:g.55326_55327del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1566-46_1566-45del MANE Select | ENSP00000387123.3:n.1566-46_1566-45del | |
| ENST00000458249.6:c.*1475-46_*1475-45del | ENSP00000403929.1:n.*1475-46_*1475-45del | |
| ENST00000485852.7:n.313-46_313-45del | ||
| ENST00000497231.7:n.1993-46_1993-45del | ||
| ENST00000635851.1:c.1563+1259_1563+1260del | ||
| ENST00000636286.1:n.1331-46_1331-45del | ||
| ENST00000636482.1:n.1100-46_1100-45del | ||
| ENST00000636743.1:c.1446-46_1446-45del | ENSP00000489725.1:n.1446-46_1446-45del | |
| ENST00000636808.1:c.*1375-46_*1375-45del | ENSP00000490833.1:n.*1375-46_*1375-45del | |
| ENST00000636872.1:c.1726-46_1726-45del | ENSP00000490919.1:n.1726-46_1726-45del | |
| ENST00000636879.1:c.1611-46_1611-45del | ENSP00000490811.1:n.1611-46_1611-45del | |
| ENST00000636886.1:c.1365-46_1365-45del | ENSP00000490371.1:n.1365-46_1365-45del | |
| ENST00000637206.1:c.1386-46_1386-45del | ENSP00000489895.1:n.1386-46_1386-45del | |
| ENST00000637272.1:c.1557-46_1557-45del | ENSP00000489686.1:n.1557-46_1557-45del | |
| ENST00000637292.1:c.1022-46_1022-45del | ||
| ENST00000637782.1:c.1565+1259_1565+1260del | ENSP00000490024.1:n.1565+1259_1565+1260del | |
| ENST00000638008.1:c.*1410-46_*1410-45del | ENSP00000490400.1:n.*1410-46_*1410-45del | |
| ENST00000638010.1:n.1512-46_1512-45del | ||
| ENST00000409134.7:c.1566-46_1566-45del | ENSP00000387123.3:n.1566-46_1566-45del | |
| ENST00000447989.6:c.1455-46_1455-45del | ENSP00000414132.2:n.1455-46_1455-45del | |
| ENST00000485852.6:n.313-46_313-45del | ||
| ENST00000497231.6:n.1776-46_1776-45del | ||
| ENST00000553117.5:c.1374-46_1374-45del | ENSP00000448593.1:n.1374-46_1374-45del | |
| NM_001182.4:c.1566-46_1566-45del | NP_001173.2:n.1566-46_1566-45del | |
| NM_001201377.1:c.1482-46_1482-45del | NP_001188306.1:n.1482-46_1482-45del | |
| NM_001202404.1:c.1455-46_1455-45del | NP_001189333.1:n.1455-46_1455-45del | |
| XM_011543417.1:c.1161-46_1161-45del | XP_011541719.1:n.1161-46_1161-45del | |
| XM_011543417.2:c.1161-46_1161-45del | XP_011541719.1:n.1161-46_1161-45del | |
| NM_001182.5:c.1566-46_1566-45del MANE Select | NP_001173.2:n.1566-46_1566-45del | |
| NM_001201377.2:c.1482-46_1482-45del | NP_001188306.1:n.1482-46_1482-45del | |
| NM_001202404.2:c.1374-46_1374-45del | NP_001189333.2:n.1374-46_1374-45del |