Linked Data
dbSNP Id:
rs1221038757
MyVariant Identifiers:
chr20:g.44640428_44640429insTGGCCCC (hg19)
chr20:g.46011789_46011790insTGGCCCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46011789_46011790insTGGCCCC , CM000682.2:g.46011789_46011790insTGGCCCC | GRCh38 |
| NC_000020.10:g.44640428_44640429insTGGCCCC , CM000682.1:g.44640428_44640429insTGGCCCC | GRCh37 |
| NC_000020.9:g.44073835_44073836insTGGCCCC | NCBI36 |
| NG_011468.1:g.7882_7883insTGGCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.997+42_997+43insTGGCCCC MANE Select | ENSP00000361405.3:n.997+42_997+43insTGGCCCC | |
| NM_004994.2:c.997+42_997+43insTGGCCCC | NP_004985.2:n.997+42_997+43insTGGCCCC | |
| NM_004994.3:c.997+42_997+43insTGGCCCC MANE Select | NP_004985.2:n.997+42_997+43insTGGCCCC |