Linked Data
gnomAD v3:
19-6713653-C-CGGTGATGGTGACCTCCAGGCCCTTCT
gnomAD v4:
19-6713653-C-CGGTGATGGTGACCTCCAGGCCCTTCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713653_6713654insGGTGATGGTGACCTCCAGGCCCTTCT , CM000681.2:g.6713653_6713654insGGTGATGGTGACCTCCAGGCCCTTCT | GRCh38 |
| NC_000019.9:g.6713664_6713665insGGTGATGGTGACCTCCAGGCCCTTCT , CM000681.1:g.6713664_6713665insGGTGATGGTGACCTCCAGGCCCTTCT | GRCh37 |
| NC_000019.8:g.6664664_6664665insGGTGATGGTGACCTCCAGGCCCTTCT | NCBI36 |
| NG_009557.1:g.11998_11999insAGAAGGGCCTGGAGGTCACCATCACC , LRG_27:g.11998_11999insAGAAGGGCCTGGAGGTCACCATCACC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.651-145_651-144insAGAAGGGCCTGGAGGTCACCATCACC | ENSP00000512083.1:n.651-145_651-144insAGAAGGGCCTGGAGGTCACCATC... | |
| ENST00000245907.11:c.774-145_774-144insAGAAGGGCCTGGAGGTCACCATCACC MANE Select | ENSP00000245907.4:n.774-145_774-144insAGAAGGGCCTGGAGGTCACCATC... | |
| ENST00000245907.10:c.774-145_774-144insAGAAGGGCCTGGAGGTCACCATCACC | ENSP00000245907.4:n.774-145_774-144insAGAAGGGCCTGGAGGTCACCATC... | |
| ENST00000595577.1:n.278-145_278-144insAGAAGGGCCTGGAGGTCACCATCACC | ||
| ENST00000597442.5:n.23+112_23+113insAGAAGGGCCTGGAGGTCACCATCACC | ||
| NM_000064.3:c.774-145_774-144insAGAAGGGCCTGGAGGTCACCATCACC | NP_000055.2:n.774-145_774-144insAGAAGGGCCTGGAGGTCACCATCACC | |
| NM_000064.4:c.774-145_774-144insAGAAGGGCCTGGAGGTCACCATCACC MANE Select | NP_000055.2:n.774-145_774-144insAGAAGGGCCTGGAGGTCACCATCACC |