Linked Data
dbSNP Id:
rs748830812
ExAC:
16:89220509 CCCCGTA / C
gnomAD v2:
16-89220509-CCCCGTA-C
gnomAD v3:
16-89154101-CCCCGTA-C
gnomAD v4:
16-89154101-CCCCGTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89154103_89154108del , CM000678.2:g.89154103_89154108del | GRCh38 |
| NC_000016.9:g.89220511_89220516del , CM000678.1:g.89220511_89220516del | GRCh37 |
| NC_000016.8:g.87748012_87748017del | NCBI36 |
| NG_031961.1:g.65295_65300del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317447.9:c.1627_1632del | ENSP00000320646.4:p.Pro543_Tyr544del | |
| ENST00000614302.5:c.1627_1632del MANE Select | ENSP00000479130.1:p.Pro543_Tyr544del | |
| ENST00000649953.1:c.1837_1842del | ENSP00000497456.1:p.Pro613_Tyr614del | |
| ENST00000317447.8:c.1627_1632del | ENSP00000320646.4:p.Pro543_Tyr544del | |
| ENST00000378345.8:c.832_837del | ENSP00000367596.4:p.Pro278_Tyr279del | |
| ENST00000393145.5:n.6537_6542del | ||
| ENST00000406948.7:c.1627_1632del | ENSP00000384627.3:p.Pro543_Tyr544del | |
| ENST00000537116.5:n.753_758del | ||
| ENST00000537155.1:n.367_372del | ||
| ENST00000542688.5:c.*371_*376del | ENSP00000446281.1:n.*371_*376del | |
| ENST00000614302.4:c.1627_1632del | ENSP00000479130.1:p.Pro543_Tyr544del | |
| NM_001127214.3:c.1627_1632del | NP_001120686.1:p.Pro543_Tyr544del | |
| NM_001243279.2:c.1627_1632del | NP_001230208.1:p.Pro543_Tyr544del | |
| NM_001284316.1:c.832_837del | NP_001271245.1:p.Pro278_Tyr279del | |
| NM_174917.4:c.1627_1632del | NP_777577.2:p.Pro543_Tyr544del | |
| NR_045667.2:n.753_758del | ||
| NR_104293.1:n.2061_2066del | ||
| XR_933239.1:n.2068_2073del | ||
| XR_933240.1:n.2065_2070del | ||
| XR_933241.1:n.1822_1827del | ||
| NR_147928.1:n.2105_2110del | ||
| NR_147929.1:n.1859_1864del | ||
| XM_017023020.2:c.-3478_-3473del | XP_016878509.1:n.-3478_-3473del | |
| XM_024450187.1:c.832_837del | XP_024305955.1:p.Pro278_Tyr279del | |
| XR_001751864.2:n.1874_1879del | ||
| XR_933240.3:n.2064_2069del | ||
| NM_001127214.4:c.1627_1632del | NP_001120686.1:p.Pro543_Tyr544del | |
| NM_001243279.3:c.1627_1632del MANE Select | NP_001230208.1:p.Pro543_Tyr544del | |
| NM_001284316.2:c.832_837del | NP_001271245.1:p.Pro278_Tyr279del | |
| NM_174917.5:c.1627_1632del | NP_777577.2:p.Pro543_Tyr544del | |
| NR_104293.2:n.2018_2023del | ||
| NR_147928.2:n.2062_2067del | ||
| NR_147929.2:n.1816_1821del |