Linked Data
dbSNP Id:
rs767114988
gnomAD v2:
4-187207020-GT-G
gnomAD v3:
4-186285866-GT-G
gnomAD v4:
4-186285866-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186285869del , CM000666.2:g.186285869del | GRCh38 |
| NC_000004.11:g.187207023del , CM000666.1:g.187207023del | GRCh37 |
| NC_000004.10:g.187444017del | NCBI36 |
| NG_008051.1:g.24906del , LRG_583:g.24906del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1480+56del MANE Select | ENSP00000384957.2:n.1480+56del | |
| ENST00000264691.4:c.176+56del | ||
| ENST00000264692.8:c.1318+56del | ENSP00000264692.5:n.1318+56del | |
| ENST00000403665.6:c.1480+56del | ENSP00000384957.2:n.1480+56del | |
| NM_000128.3:c.1480+56del , LRG_583t1:c.1480+56del | NP_000119.1:n.1480+56del | |
| XM_005262821.2:c.1483+56del | XP_005262878.1:n.1483+56del | |
| XM_005262822.2:c.1483+56del | XP_005262879.1:n.1483+56del | |
| XM_005262823.2:c.1213+56del | XP_005262880.1:n.1213+56del | |
| XM_005262824.1:c.1483+56del | XP_005262881.1:n.1483+56del | |
| XM_006714137.1:c.1435+56del | XP_006714200.1:n.1435+56del | |
| XR_938706.1:n.1888+56del | ||
| XR_938707.1:n.1888+56del | ||
| XM_005262821.4:c.1483+56del | XP_005262878.1:n.1483+56del | |
| XM_005262822.4:c.1483+56del | XP_005262879.1:n.1483+56del | |
| XM_005262823.4:c.1213+56del | XP_005262880.1:n.1213+56del | |
| XM_006714137.3:c.1435+56del | XP_006714200.1:n.1435+56del | |
| XR_001741172.2:n.1954+56del | ||
| NM_000128.4:c.1480+56del MANE Select | NP_000119.1:n.1480+56del |