Linked Data
dbSNP Id:
rs1380853748
gnomAD v3:
5-53658646-CAAAGTCAAGATA-C
gnomAD v4:
5-53658646-CAAAGTCAAGATA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53658648_53658659del , CM000667.2:g.53658648_53658659del | GRCh38 |
| NC_000005.9:g.52954478_52954489del , CM000667.1:g.52954478_52954489del | GRCh37 |
| NC_000005.8:g.52990235_52990246del | NCBI36 |
| NG_008200.1:g.103014_103025del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296684.10:c.424+24_424+35del MANE Select | ENSP00000296684.5:n.424+24_424+35del | |
| ENST00000296684.9:c.424+24_424+35del | ENSP00000296684.5:n.424+24_424+35del | |
| ENST00000502423.5:c.*291+24_*291+35del | ENSP00000422177.1:n.*291+24_*291+35del | |
| ENST00000506765.1:c.338+12243_338+12254del | ENSP00000424570.1:n.338+12243_338+12254del | |
| ENST00000506974.5:c.*200+24_*200+35del | ENSP00000425967.1:n.*200+24_*200+35del | |
| ENST00000507026.5:c.*398+24_*398+35del | ENSP00000424993.1:n.*398+24_*398+35del | |
| ENST00000509443.1:n.309_320del | ||
| NM_002495.2:c.424+24_424+35del | NP_002486.1:n.424+24_424+35del | |
| XM_005248525.3:c.350+12243_350+12254del | XP_005248582.1:n.350+12243_350+12254del | |
| XM_011543415.1:c.250+24_250+35del | XP_011541717.1:n.250+24_250+35del | |
| NM_001318051.1:c.350+12243_350+12254del | NP_001304980.1:n.350+12243_350+12254del | |
| NM_002495.3:c.424+24_424+35del | NP_002486.1:n.424+24_424+35del | |
| NR_134473.1:n.626+24_626+35del | ||
| NR_134474.1:n.543+24_543+35del | ||
| NR_134475.1:n.578+24_578+35del | ||
| NM_002495.4:c.424+24_424+35del MANE Select | NP_002486.1:n.424+24_424+35del | |
| NM_001318051.2:c.350+12243_350+12254del | NP_001304980.1:n.350+12243_350+12254del | |
| NR_134473.2:n.620+24_620+35del | ||
| NR_134474.2:n.537+24_537+35del | ||
| NR_134475.2:n.572+24_572+35del |