Linked Data
dbSNP Id:
rs1384112327
gnomAD v3:
16-13944395-GGTGGCATTTTTTACAT-G
gnomAD v4:
16-13944395-GGTGGCATTTTTTACAT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13944408_13944423del , CM000678.2:g.13944408_13944423del | GRCh38 |
| NC_000016.9:g.14038265_14038280del , CM000678.1:g.14038265_14038280del | GRCh37 |
| NC_000016.8:g.13945766_13945781del | NCBI36 |
| NG_011442.1:g.29252_29267del , LRG_463:g.29252_29267del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2043-315_2043-300del | ENSP00000507912.1:n.2043-315_2043-300del | |
| ENST00000683962.1:c.*1599-315_*1599-300del | ENSP00000506854.1:n.*1599-315_*1599-300del | |
| ENST00000311895.8:c.1905-315_1905-300del MANE Select | ENSP00000310520.7:n.1905-315_1905-300del | |
| ENST00000311895.7:c.1905-315_1905-300del | ENSP00000310520.7:n.1905-315_1905-300del | |
| ENST00000389138.7:n.1182-315_1182-300del | ||
| ENST00000462862.1:c.217+313_218-300del | ENSP00000461322.1:n.217+313_218-300del | |
| NM_005236.2:c.1905-315_1905-300del , LRG_463t1:c.1905-315_1905-300del | NP_005227.1:n.1905-315_1905-300del | |
| XM_011522424.1:c.2043-315_2043-300del | XP_011520726.1:n.2043-315_2043-300del | |
| XM_011522425.1:c.1362-315_1362-300del | XP_011520727.1:n.1362-315_1362-300del | |
| XM_011522426.1:c.1116-315_1116-300del | XP_011520728.1:n.1116-315_1116-300del | |
| XM_011522427.1:c.555-315_555-300del | XP_011520729.1:n.555-315_555-300del | |
| XR_932805.1:n.2064-315_2064-300del | ||
| XM_011522424.3:c.2043-315_2043-300del | XP_011520726.1:n.2043-315_2043-300del | |
| XM_017023043.2:c.1116-315_1116-300del | XP_016878532.1:n.1116-315_1116-300del | |
| NM_005236.3:c.1905-315_1905-300del MANE Select | NP_005227.1:n.1905-315_1905-300del |