Linked Data
dbSNP Id:
rs1191852009
MyVariant Identifiers:
chr5:g.1213480_1213481insATGCCCCGCCCCCAT (hg19)
chr5:g.1213365_1213366insATGCCCCGCCCCCAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213380_1213394dup , CM000667.2:g.1213380_1213394dup | GRCh38 |
| NC_000005.9:g.1213495_1213509dup , CM000667.1:g.1213495_1213509dup | GRCh37 |
| NC_000005.8:g.1266495_1266509dup | NCBI36 |
| NG_008282.1:g.16786_16800dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.664-83_664-69dup MANE Select | ENSP00000305302.10:n.664-83_664-69dup | |
| ENST00000304460.10:c.664-83_664-69dup | ENSP00000305302.10:n.664-83_664-69dup | |
| ENST00000515652.5:c.572-83_572-69dup | ENSP00000425701.1:n.572-83_572-69dup | |
| NM_001003841.2:c.664-83_664-69dup | NP_001003841.1:n.664-83_664-69dup | |
| NM_001003841.3:c.664-83_664-69dup MANE Select | NP_001003841.1:n.664-83_664-69dup |