Linked Data
dbSNP Id:
rs1269980872
MyVariant Identifiers:
chr17:g.4802670_4802671insCAGGAGAACCTGGGG (hg19)
chr17:g.4899375_4899376insCAGGAGAACCTGGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4899380_4899394dup , CM000679.2:g.4899380_4899394dup | GRCh38 |
| NC_000017.10:g.4802675_4802689dup , CM000679.1:g.4802675_4802689dup | GRCh37 |
| NC_000017.9:g.4743454_4743468dup | NCBI36 |
| NG_008029.2:g.8686_8700dup | |
| NG_028005.1:g.71041_71055dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.1033-6_1041dup | ||
| ENST00000649830.1:c.100-6_108dup | ||
| ENST00000652550.1:n.763-6_771dup | ||
| ENST00000293780.4:c.1033-6_1041dup | ||
| ENST00000572438.1:n.719-6_727dup | ||
| NM_000080.3:c.1033-6_1041dup | ||
| NM_000080.4:c.1033-6_1041dup | ||
| XM_017024115.1:c.997-6_1005dup | ||
| XR_001752421.1:n.1763-6_1771dup |