Linked Data
dbSNP Id:
rs1568733140
gnomAD v2:
19-47207895-T-TCAGCCCG
gnomAD v4:
19-46704638-T-TCAGCCCG
MyVariant Identifiers:
chr19:g.47207895_47207896insCAGCCCG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.46704644_46704650dup , CM000681.2:g.46704644_46704650dup | GRCh38 |
| NC_000019.9:g.47207901_47207907dup , CM000681.1:g.47207901_47207907dup | GRCh37 |
| NC_000019.8:g.51899741_51899747dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291281.9:c.516_522dup | ||
| ENST00000291281.8:c.516_522dup | ||
| ENST00000433867.5:c.516_522dup | ||
| ENST00000595132.5:c.45_51dup | ||
| ENST00000595515.5:c.516_522dup | ||
| ENST00000597641.1:c.251_257dup | ||
| ENST00000598633.1:c.45_51dup | ||
| ENST00000600194.5:c.45_51dup | ||
| ENST00000601605.5:c.41-3533_41-3527dup | ENSP00000470442.1:n.41-3533_41-3527dup | |
| ENST00000601806.5:c.45_51dup | ||
| NM_001079880.1:c.516_522dup | ||
| NM_001079881.1:c.516_522dup | ||
| NM_001079882.1:c.45_51dup | ||
| NM_016457.4:c.516_522dup | ||
| XM_005258716.2:c.45_51dup | ||
| NM_001079880.2:c.516_522dup | ||
| NM_001079881.2:c.516_522dup | ||
| NM_001079882.2:c.45_51dup | ||
| NM_016457.5:c.516_522dup |