gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.98533821del , CM000674.2:g.98533821del | GRCh38 |
| NC_000012.11:g.98927599del , CM000674.1:g.98927599del | GRCh37 |
| NC_000012.10:g.97451730del | NCBI36 |
| NG_021393.1:g.23249del , LRG_443:g.23249del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556029.6:c.565+1983del MANE Select | ENSP00000450627.1:n.565+1983del | |
| ENST00000261210.9:c.565+1983del | ENSP00000261210.5:n.565+1983del | |
| ENST00000266732.8:c.1564del | ENSP00000266732.4:p.Val522PhefsTer15 | |
| ENST00000343315.9:c.565+1983del | ENSP00000340251.5:n.565+1983del | |
| ENST00000393053.6:c.565+1983del | ENSP00000376773.2:n.565+1983del | |
| ENST00000552831.1:n.643+1983del | ||
| ENST00000556029.5:c.565+1983del | ENSP00000450627.1:n.565+1983del | |
| ENST00000556678.1:c.286+1983del | ENSP00000451552.1:n.286+1983del | |
| NM_001032283.2:c.565+1983del , LRG_443t1:c.565+1983del | NP_001027454.1:n.565+1983del | |
| NM_001032284.2:c.565+1983del | NP_001027455.1:n.565+1983del | |
| NM_001307975.1:c.565+1983del | NP_001294904.1:n.565+1983del | |
| NM_003276.2:c.1564del , LRG_443t2:c.1564del | NP_003267.1:p.Val522PhefsTer15 | |
| XM_005269132.2:c.565+1983del | XP_005269189.1:n.565+1983del | |
| XM_005269132.4:c.565+1983del | XP_005269189.1:n.565+1983del | |
| XM_017019914.2:c.658del | XP_016875403.1:p.Val220PhefsTer15 | |
| NM_001032283.3:c.565+1983del MANE Select | NP_001027454.1:n.565+1983del | |
| NM_001032284.3:c.565+1983del | NP_001027455.1:n.565+1983del | |
| NM_001307975.2:c.565+1983del | NP_001294904.1:n.565+1983del |