Linked Data
dbSNP Id:
rs773277635
ExAC:
11:64527389 C / CGGACT
gnomAD v2:
11-64527389-C-CGGACT
gnomAD v3:
11-64759917-C-CGGACT
gnomAD v4:
11-64759917-C-CGGACT
MyVariant Identifiers:
chr11:g.64527389_64527390insGGACT (hg19)
chr11:g.64759917_64759918insGGACT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64759924_64759928dup , CM000673.2:g.64759924_64759928dup | GRCh38 |
| NC_000011.9:g.64527396_64527400dup , CM000673.1:g.64527396_64527400dup | GRCh37 |
| NC_000011.8:g.64283972_64283976dup | NCBI36 |
| NG_013018.1:g.5794_5798dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.-24_-20dup MANE Select | ENSP00000164139.3:n.-24_-20dup | |
| ENST00000164139.3:c.-24_-20dup | ENSP00000164139.3:n.-24_-20dup | |
| ENST00000377432.7:c.-24_-20dup | ENSP00000366650.3:n.-24_-20dup | |
| NM_001164716.1:c.-24_-20dup | NP_001158188.1:n.-24_-20dup | |
| NM_005609.2:c.-24_-20dup | NP_005600.1:n.-24_-20dup | |
| NM_005609.3:c.-24_-20dup | NP_005600.1:n.-24_-20dup | |
| NM_005609.4:c.-24_-20dup MANE Select | NP_005600.1:n.-24_-20dup |