Linked Data
gnomAD v3:
19-6713685-CCACCCCCCACATGGTCCCACCT-C
gnomAD v4:
19-6713685-CCACCCCCCACATGGTCCCACCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713687_6713708del , CM000681.2:g.6713687_6713708del | GRCh38 |
| NC_000019.9:g.6713698_6713719del , CM000681.1:g.6713698_6713719del | GRCh37 |
| NC_000019.8:g.6664698_6664719del | NCBI36 |
| NG_009557.1:g.11945_11966del , LRG_27:g.11945_11966del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.651-198_651-177del | ENSP00000512083.1:n.651-198_651-177del | |
| ENST00000245907.11:c.774-198_774-177del MANE Select | ENSP00000245907.4:n.774-198_774-177del | |
| ENST00000245907.10:c.774-198_774-177del | ENSP00000245907.4:n.774-198_774-177del | |
| ENST00000595577.1:n.278-198_278-177del | ||
| ENST00000597442.5:n.23+59_23+80del | ||
| NM_000064.3:c.774-198_774-177del | NP_000055.2:n.774-198_774-177del | |
| NM_000064.4:c.774-198_774-177del MANE Select | NP_000055.2:n.774-198_774-177del |