Linked Data
ClinVar Variation Id:
2140914
ClinVar RCV Id:
RCV003073818
dbSNP Id:
rs1569005431
gnomAD v2:
19-1399114-C-CA
gnomAD v4:
19-1399115-C-CA
MyVariant Identifiers:
chr19:g.1399116_1399118delinsAGAG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399116dup , CM000681.2:g.1399116dup | GRCh38 |
| NC_000019.9:g.1399115dup , CM000681.1:g.1399115dup | GRCh37 |
| NC_000019.8:g.1350115dup | NCBI36 |
| NG_009785.1:g.7438dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.459+12dup MANE Select | ENSP00000252288.1:n.459+12dup | |
| ENST00000447102.8:c.459+12dup | ENSP00000403536.2:n.459+12dup | |
| ENST00000591788.3:c.142+12dup | ||
| ENST00000640164.1:n.292+12dup | ||
| ENST00000640762.1:c.390+12dup | ENSP00000492031.1:n.390+12dup | |
| ENST00000252288.6:c.459+12dup | ENSP00000252288.1:n.459+12dup | |
| ENST00000447102.7:c.459+12dup | ENSP00000403536.2:n.459+12dup | |
| ENST00000591788.2:c.144+12dup | ENSP00000466341.2:n.144+12dup | |
| NM_000156.5:c.459+12dup | NP_000147.1:n.459+12dup | |
| NM_138924.2:c.459+12dup | NP_620279.1:n.459+12dup | |
| NM_000156.6:c.459+12dup MANE Select | NP_000147.1:n.459+12dup | |
| NM_138924.3:c.459+12dup | NP_620279.1:n.459+12dup |