Linked Data
dbSNP Id:
rs143680252
ExAC:
19:6681929 AG / A
gnomAD v2:
19-6681929-AG-A
gnomAD v3:
19-6681918-AG-A
gnomAD v4:
19-6681918-AG-A
MyVariant Identifiers:
chr19:g.6681930del (hg19)
chr19:g.6681920del (hg38)
chr19:g.6681919del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6681922del , CM000681.2:g.6681922del | GRCh38 |
| NC_000019.9:g.6681933del , CM000681.1:g.6681933del | GRCh37 |
| NC_000019.8:g.6632933del | NCBI36 |
| NG_009557.1:g.43733del , LRG_27:g.43733del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2698+22del | ||
| ENST00000695653.1:c.2259+22del | ENSP00000512084.1:n.2259+22del | |
| ENST00000695654.1:c.3375+22del | ENSP00000512085.1:n.3375+22del | |
| ENST00000695689.1:c.321+22del | ENSP00000512101.1:n.321+22del | |
| ENST00000695690.1:n.563del | ||
| ENST00000695691.1:n.563del | ||
| ENST00000245907.11:c.4350+22del MANE Select | ENSP00000245907.4:n.4350+22del | |
| ENST00000245907.10:c.4350+22del | ENSP00000245907.4:n.4350+22del | |
| ENST00000596548.1:c.471+22del | ENSP00000469744.1:n.471+22del | |
| ENST00000599899.5:n.1309+22del | ||
| ENST00000601008.1:c.242-3961del | ENSP00000471384.1:n.242-3961del | |
| NM_000064.3:c.4350+22del | NP_000055.2:n.4350+22del | |
| NM_000064.4:c.4350+22del MANE Select | NP_000055.2:n.4350+22del |