Linked Data
dbSNP Id:
rs1313083565
gnomAD v2:
5-14871688-C-CGCG
gnomAD v3:
5-14871579-C-CGCG
gnomAD v4:
5-14871579-C-CGCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14871591_14871593dup , CM000667.2:g.14871591_14871593dup | GRCh38 |
| NC_000005.9:g.14871700_14871702dup , CM000667.1:g.14871700_14871702dup | GRCh37 |
| NC_000005.8:g.14924700_14924702dup | NCBI36 |
| NG_008273.1:g.5197_5199dup | |
| NG_008273.2:g.5204_5206dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.-135_-133dup MANE Select | ENSP00000284268.6:n.-135_-133dup | |
| ENST00000284268.6:c.-135_-133dup | ENSP00000284268.6:n.-135_-133dup | |
| ENST00000505140.1:c.-135_-133dup | ENSP00000426332.1:n.-135_-133dup | |
| NM_054027.4:c.-135_-133dup | NP_473368.1:n.-135_-133dup | |
| XM_011514067.1:c.-135_-133dup | XP_011512369.1:n.-135_-133dup | |
| NM_054027.5:c.-135_-133dup | NP_473368.1:n.-135_-133dup | |
| NM_054027.6:c.-135_-133dup MANE Select | NP_473368.1:n.-135_-133dup |