Linked Data
dbSNP Id:
rs765557095
ExAC:
16:1497134 AGGCG / A
gnomAD v2:
16-1497134-AGGCG-A
gnomAD v3:
16-1447133-AGGCG-A
gnomAD v4:
16-1447133-AGGCG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1447136_1447139del , CM000678.2:g.1447136_1447139del | GRCh38 |
| NC_000016.9:g.1497137_1497140del , CM000678.1:g.1497137_1497140del | GRCh37 |
| NC_000016.8:g.1437138_1437141del | NCBI36 |
| NG_007567.1:g.32948_32951del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699947.1:c.2251-51_2251-48del | ENSP00000514703.1:n.2251-51_2251-48del | |
| ENST00000699948.1:c.*564-51_*564-48del | ENSP00000514704.1:n.*564-51_*564-48del | |
| ENST00000382745.9:c.2251-51_2251-48del MANE Select | ENSP00000372193.4:n.2251-51_2251-48del | |
| ENST00000262318.12:c.2183-54_2183-51del | ENSP00000262318.8:n.2183-54_2183-51del | |
| ENST00000382745.8:c.2251-51_2251-48del | ENSP00000372193.4:n.2251-51_2251-48del | |
| ENST00000448525.5:c.2179-51_2179-48del | ENSP00000410907.1:n.2179-51_2179-48del | |
| ENST00000563642.6:n.2320-51_2320-48del | ||
| ENST00000565092.6:n.1286-51_1286-48del | ||
| ENST00000567836.2:n.492-51_492-48del | ||
| NM_001114331.2:c.2179-51_2179-48del | NP_001107803.1:n.2179-51_2179-48del | |
| NM_001287.5:c.2251-51_2251-48del | NP_001278.1:n.2251-51_2251-48del | |
| XM_011522354.1:c.2077-51_2077-48del | XP_011520656.1:n.2077-51_2077-48del | |
| NM_001287.6:c.2251-51_2251-48del MANE Select | NP_001278.1:n.2251-51_2251-48del | |
| NM_001114331.3:c.2179-51_2179-48del | NP_001107803.1:n.2179-51_2179-48del |