Linked Data
dbSNP Id:
rs1385137590
gnomAD v2:
12-48286011-CCA-C
gnomAD v3:
12-47892228-CCA-C
gnomAD v4:
12-47892228-CCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47892229_47892230del , CM000674.2:g.47892229_47892230del | GRCh38 |
| NC_000012.11:g.48286012_48286013del , CM000674.1:g.48286012_48286013del | GRCh37 |
| NC_000012.10:g.46572279_46572280del | NCBI36 |
| NG_008731.1:g.17802_17803del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000549336.6:c.-83-9456_-83-9455del MANE Select | ENSP00000449573.2:n.-83-9456_-83-9455del | |
| ENST00000229022.7:c.-84+7607_-84+7608del | ENSP00000229022.3:n.-84+7607_-84+7608del | |
| ENST00000395324.6:c.-83-9456_-83-9455del | ENSP00000378734.2:n.-83-9456_-83-9455del | |
| ENST00000546653.5:c.-3+7607_-3+7608del | ENSP00000448659.1:n.-3+7607_-3+7608del | |
| ENST00000547065.1:c.-3+12725_-3+12726del | ENSP00000449074.1:n.-3+12725_-3+12726del | |
| ENST00000548664.1:c.-84+7607_-84+7608del | ENSP00000450105.1:n.-84+7607_-84+7608del | |
| ENST00000549336.5:c.-83-9456_-83-9455del | ENSP00000449573.1:n.-83-9456_-83-9455del | |
| ENST00000550325.5:c.68-9456_68-9455del | ENSP00000447173.1:n.68-9456_68-9455del | |
| NM_000376.2:c.-83-9456_-83-9455del | NP_000367.1:n.-83-9456_-83-9455del | |
| NM_001017535.1:c.-84+7607_-84+7608del | NP_001017535.1:n.-84+7607_-84+7608del | |
| NM_001017536.1:c.68-9456_68-9455del | NP_001017536.1:n.68-9456_68-9455del | |
| XM_006719587.2:c.-3+12725_-3+12726del | XP_006719650.1:n.-3+12725_-3+12726del | |
| XM_011538720.1:c.-3+7607_-3+7608del | XP_011537022.1:n.-3+7607_-3+7608del | |
| NM_001364085.1:c.-83-9456_-83-9455del | NP_001351014.1:n.-83-9456_-83-9455del | |
| XM_006719587.3:c.-3+12725_-3+12726del | XP_006719650.1:n.-3+12725_-3+12726del | |
| XM_011538720.2:c.-3+7607_-3+7608del | XP_011537022.1:n.-3+7607_-3+7608del | |
| XM_024449178.1:c.67+12334_67+12335del | XP_024304946.1:n.67+12334_67+12335del | |
| NM_000376.3:c.-83-9456_-83-9455del MANE Select | NP_000367.1:n.-83-9456_-83-9455del | |
| NM_001017535.2:c.-84+7607_-84+7608del | NP_001017535.1:n.-84+7607_-84+7608del | |
| NM_001017536.2:c.68-9456_68-9455del | NP_001017536.1:n.68-9456_68-9455del | |
| NM_001364085.2:c.-83-9456_-83-9455del | NP_001351014.1:n.-83-9456_-83-9455del | |
| NM_001374661.1:c.-3+7607_-3+7608del | NP_001361590.1:n.-3+7607_-3+7608del | |
| NM_001374662.1:c.-3+12725_-3+12726del | NP_001361591.1:n.-3+12725_-3+12726del |