Linked Data
dbSNP Id:
rs775730652
gnomAD v2:
16-23635553-CTTT-C
gnomAD v3:
16-23624232-CTTT-C
gnomAD v4:
16-23624232-CTTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23624235_23624237del , CM000678.2:g.23624235_23624237del | GRCh38 |
| NC_000016.9:g.23635556_23635558del , CM000678.1:g.23635556_23635558del | GRCh37 |
| NC_000016.8:g.23543057_23543059del | NCBI36 |
| NG_007406.1:g.22123_22125del , LRG_308:g.22123_22125del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.2755-141_2755-139del | ENSP00000460666.3:n.2755-141_2755-139del | |
| ENST00000565038.2:c.*230-141_*230-139del | ENSP00000459882.2:n.*230-141_*230-139del | |
| ENST00000566069.6:c.2749-141_2749-139del | ENSP00000459237.2:n.2749-141_2749-139del | |
| ENST00000697377.2:c.2593-141_2593-139del | ENSP00000513286.2:n.2593-141_2593-139del | |
| ENST00000697379.2:c.2755-141_2755-139del | ENSP00000513287.2:n.2755-141_2755-139del | |
| ENST00000561514.2:c.1864-141_1864-139del | ENSP00000460666.2:n.1864-141_1864-139del | |
| ENST00000697374.1:c.1864-141_1864-139del | ENSP00000513284.1:n.1864-141_1864-139del | |
| ENST00000697375.1:n.4096-141_4096-139del | ||
| ENST00000697376.1:c.1864-141_1864-139del | ENSP00000513285.1:n.1864-141_1864-139del | |
| ENST00000697377.1:c.1702-141_1702-139del | ENSP00000513286.1:n.1702-141_1702-139del | |
| ENST00000697378.1:n.3269-141_3269-139del | ||
| ENST00000697379.1:c.1864-141_1864-139del | ENSP00000513287.1:n.1864-141_1864-139del | |
| ENST00000697380.1:n.2041-141_2041-139del | ||
| ENST00000697381.1:n.1444-141_1444-139del | ||
| ENST00000697382.1:c.1864-141_1864-139del | ENSP00000513288.1:n.1864-141_1864-139del | |
| ENST00000697383.1:c.283-141_283-139del | ENSP00000513289.1:n.283-141_283-139del | |
| ENST00000261584.9:c.2749-141_2749-139del MANE Select | ENSP00000261584.4:n.2749-141_2749-139del | |
| ENST00000261584.8:c.2749-141_2749-139del | ENSP00000261584.4:n.2749-141_2749-139del | |
| ENST00000565038.1:c.321-141_321-139del | ||
| ENST00000568219.5:c.1864-141_1864-139del | ENSP00000454703.2:n.1864-141_1864-139del | |
| NM_024675.3:c.2749-141_2749-139del , LRG_308t1:c.2749-141_2749-139del | NP_078951.2:n.2749-141_2749-139del | |
| XM_011545946.1:c.2755-141_2755-139del | XP_011544248.1:n.2755-141_2755-139del | |
| XM_011545947.1:c.2755-141_2755-139del | XP_011544249.1:n.2755-141_2755-139del | |
| XM_011545948.1:c.1864-141_1864-139del | XP_011544250.1:n.1864-141_1864-139del | |
| XR_950851.1:n.3545-141_3545-139del | ||
| XM_011545946.2:c.2755-141_2755-139del | XP_011544248.1:n.2755-141_2755-139del | |
| XM_011545947.2:c.2755-141_2755-139del | XP_011544249.1:n.2755-141_2755-139del | |
| XM_011545948.2:c.1864-141_1864-139del | XP_011544250.1:n.1864-141_1864-139del | |
| XM_017023671.1:c.2755-141_2755-139del | XP_016879160.1:n.2755-141_2755-139del | |
| XM_017023672.2:c.2749-141_2749-139del | XP_016879161.1:n.2749-141_2749-139del | |
| XM_017023673.2:c.2749-141_2749-139del | XP_016879162.1:n.2749-141_2749-139del | |
| NM_024675.4:c.2749-141_2749-139del MANE Select | NP_078951.2:n.2749-141_2749-139del |