Linked Data
dbSNP Id:
rs1338053608
gnomAD v2:
15-48426435-ATCATT-A
gnomAD v3:
15-48134238-ATCATT-A
gnomAD v4:
15-48134238-ATCATT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48134245_48134249del , CM000677.2:g.48134245_48134249del | GRCh38 |
| NC_000015.9:g.48426442_48426446del , CM000677.1:g.48426442_48426446del | GRCh37 |
| NC_000015.8:g.46213734_46213738del | NCBI36 |
| NG_011500.1:g.18274_18278del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341459.8:c.302-13_302-9del MANE Select | ENSP00000341550.3:n.302-13_302-9del | |
| ENST00000341459.7:c.302-13_302-9del | ENSP00000341550.3:n.302-13_302-9del | |
| ENST00000449382.2:c.122-13_122-9del | ENSP00000389966.2:n.122-13_122-9del | |
| ENST00000463289.1:n.62-13_62-9del | ||
| NM_205850.2:c.302-13_302-9del | NP_995322.1:n.302-13_302-9del | |
| XM_011521458.1:c.302-13_302-9del | XP_011519760.1:n.302-13_302-9del | |
| XM_017022079.1:c.-38-13_-38-9del | XP_016877568.1:n.-38-13_-38-9del | |
| XM_017022080.1:c.-38-13_-38-9del | XP_016877569.1:n.-38-13_-38-9del | |
| XM_024449901.1:c.-38-13_-38-9del | XP_024305669.1:n.-38-13_-38-9del | |
| NM_205850.3:c.302-13_302-9del MANE Select | NP_995322.1:n.302-13_302-9del |