Linked Data
dbSNP Id:
rs1564845897
gnomAD v2:
11-299456-G-GCC
gnomAD v4:
11-299456-G-GCC
MyVariant Identifiers:
chr11:g.299456_299457insCC (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.299458_299459dup , CM000673.2:g.299458_299459dup | GRCh38 |
| NC_000011.9:g.299458_299459dup , CM000673.1:g.299458_299459dup | GRCh37 |
| NC_000011.8:g.289458_289459dup | NCBI36 |
| NG_032892.1:g.5069_5070dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382614.2:c.33_34dup MANE Select | ENSP00000372059.2:p.Ala12GlyfsTer27 | |
| NM_001025295.2:c.33_34dup | NP_001020466.1:p.Ala12GlyfsTer27 | |
| NM_001025295.3:c.33_34dup MANE Select | NP_001020466.1:p.Ala12GlyfsTer27 |