Linked Data
gnomAD v4:
19-6713693-CACATGGTCCCACCTCCAGCCCCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713694_6713716del , CM000681.2:g.6713694_6713716del | GRCh38 |
| NC_000019.9:g.6713705_6713727del , CM000681.1:g.6713705_6713727del | GRCh37 |
| NC_000019.8:g.6664705_6664727del | NCBI36 |
| NG_009557.1:g.11936_11958del , LRG_27:g.11936_11958del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.651-207_651-185del | ENSP00000512083.1:n.651-207_651-185del | |
| ENST00000245907.11:c.774-207_774-185del MANE Select | ENSP00000245907.4:n.774-207_774-185del | |
| ENST00000245907.10:c.774-207_774-185del | ENSP00000245907.4:n.774-207_774-185del | |
| ENST00000595577.1:n.278-207_278-185del | ||
| ENST00000597442.5:n.23+50_23+72del | ||
| NM_000064.3:c.774-207_774-185del | NP_000055.2:n.774-207_774-185del | |
| NM_000064.4:c.774-207_774-185del MANE Select | NP_000055.2:n.774-207_774-185del |