Linked Data
gnomAD v4:
19-6713707-T-TCCAGCCCCTCACCTGGCCCCACCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713716_6713739dup , CM000681.2:g.6713716_6713739dup | GRCh38 |
| NC_000019.9:g.6713727_6713750dup , CM000681.1:g.6713727_6713750dup | GRCh37 |
| NC_000019.8:g.6664727_6664750dup | NCBI36 |
| NG_009557.1:g.11921_11944dup , LRG_27:g.11921_11944dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.651-222_651-199dup | ENSP00000512083.1:n.651-222_651-199dup | |
| ENST00000245907.11:c.774-222_774-199dup MANE Select | ENSP00000245907.4:n.774-222_774-199dup | |
| ENST00000245907.10:c.774-222_774-199dup | ENSP00000245907.4:n.774-222_774-199dup | |
| ENST00000595577.1:n.278-222_278-199dup | ||
| ENST00000597442.5:n.23+35_23+58dup | ||
| NM_000064.3:c.774-222_774-199dup | NP_000055.2:n.774-222_774-199dup | |
| NM_000064.4:c.774-222_774-199dup MANE Select | NP_000055.2:n.774-222_774-199dup |