Linked Data
gnomAD v3:
5-53658784-C-CAAAAAAAAAAAAAAAAAAAAAACAAAAAAA
gnomAD v4:
5-53658784-C-CAAAAAAAAAAAAAAAAAAAAAACAAAAAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53658804_53658805insAACAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000667.2:g.53658804_53658805insAACAAAAAAAAAAAAAAAAAAAAAAAAAAA | GRCh38 |
| NC_000005.9:g.52954634_52954635insAACAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000667.1:g.52954634_52954635insAACAAAAAAAAAAAAAAAAAAAAAAAAAAA | GRCh37 |
| NC_000005.8:g.52990391_52990392insAACAAAAAAAAAAAAAAAAAAAAAAAAAAA | NCBI36 |
| NG_008200.1:g.103170_103171insAACAAAAAAAAAAAAAAAAAAAAAAAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296684.10:c.424+180_424+181insAACAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select | ENSP00000296684.5:n.424+180_424+181insAACAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000296684.9:c.424+180_424+181insAACAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000296684.5:n.424+180_424+181insAACAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000502423.5:c.*291+180_*291+181insAACAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000422177.1:n.*291+180_*291+181insAACAAAAAAAAAAAAAAAAAA... | |
| ENST00000506765.1:c.338+12399_338+12400insAACAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000424570.1:n.338+12399_338+12400insAACAAAAAAAAAAAAAAAA... | |
| ENST00000506974.5:c.*200+180_*200+181insAACAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000425967.1:n.*200+180_*200+181insAACAAAAAAAAAAAAAAAAAA... | |
| ENST00000507026.5:c.*398+180_*398+181insAACAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000424993.1:n.*398+180_*398+181insAACAAAAAAAAAAAAAAAAAA... | |
| NM_002495.2:c.424+180_424+181insAACAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_002486.1:n.424+180_424+181insAACAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_005248525.3:c.350+12399_350+12400insAACAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_005248582.1:n.350+12399_350+12400insAACAAAAAAAAAAAAAAAAAAA... | |
| XM_011543415.1:c.250+180_250+181insAACAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_011541717.1:n.250+180_250+181insAACAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001318051.1:c.350+12399_350+12400insAACAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001304980.1:n.350+12399_350+12400insAACAAAAAAAAAAAAAAAAAAA... | |
| NM_002495.3:c.424+180_424+181insAACAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_002486.1:n.424+180_424+181insAACAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NR_134473.1:n.626+180_626+181insAACAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| NR_134474.1:n.543+180_543+181insAACAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| NR_134475.1:n.578+180_578+181insAACAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| NM_002495.4:c.424+180_424+181insAACAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select | NP_002486.1:n.424+180_424+181insAACAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001318051.2:c.350+12399_350+12400insAACAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001304980.1:n.350+12399_350+12400insAACAAAAAAAAAAAAAAAAAAA... | |
| NR_134473.2:n.620+180_620+181insAACAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| NR_134474.2:n.537+180_537+181insAACAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| NR_134475.2:n.572+180_572+181insAACAAAAAAAAAAAAAAAAAAAAAAAAAAA |