Linked Data
dbSNP Id:
rs1330513947
gnomAD v2:
14-68242830-GT-G
gnomAD v3:
14-67776113-GT-G
gnomAD v4:
14-67776113-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67776114del , CM000676.2:g.67776114del | GRCh38 |
| NC_000014.8:g.68242831del , CM000676.1:g.68242831del | GRCh37 |
| NC_000014.7:g.67312584del | NCBI36 |
| NG_011836.1:g.45476del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347230.9:c.4975-8del MANE Select | ENSP00000251119.5:n.4975-8del | |
| ENST00000676512.1:c.4975-8del | ENSP00000504552.1:n.4975-8del | |
| ENST00000676620.1:c.4975-86del | ENSP00000504587.1:n.4975-86del | |
| ENST00000678386.1:c.5020-8del | ENSP00000503677.1:n.5020-8del | |
| ENST00000347230.8:c.4975-8del | ENSP00000251119.5:n.4975-8del | |
| ENST00000554523.5:n.5112-8del | ||
| ENST00000554557.5:c.*2953-8del | ENSP00000450431.1:n.*2953-8del | |
| ENST00000555452.1:c.4975-8del | ENSP00000450603.1:n.4975-8del | |
| NM_015346.3:c.4975-8del | NP_056161.2:n.4975-8del | |
| XM_006720093.2:c.4975-8del | XP_006720156.1:n.4975-8del | |
| XM_011536606.1:c.3466-8del | XP_011534908.1:n.3466-8del | |
| XM_011536607.1:c.2650-8del | XP_011534909.1:n.2650-8del | |
| XM_011536608.1:c.2557-8del | XP_011534910.1:n.2557-8del | |
| XM_011536609.1:c.4984del | XP_011534911.1:p.Thr1662GlnfsTer9 | |
| XM_011536609.2:c.4984del | XP_011534911.1:p.Thr1662GlnfsTer9 | |
| XM_017021124.1:c.4975-8del | XP_016876613.1:n.4975-8del | |
| XM_017021125.1:c.4975-8del | XP_016876614.1:n.4975-8del | |
| XM_017021126.1:c.3466-8del | XP_016876615.1:n.3466-8del | |
| XM_017021127.2:c.2650-8del | XP_016876616.1:n.2650-8del | |
| XM_017021128.1:c.2557-8del | XP_016876617.1:n.2557-8del | |
| NM_015346.4:c.4975-8del MANE Select | NP_056161.2:n.4975-8del |