Linked Data
dbSNP Id:
rs1735827791
gnomAD v3:
5-14871529-GGGCGAGC-G
gnomAD v4:
5-14871529-GGGCGAGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14871532_14871538del , CM000667.2:g.14871532_14871538del | GRCh38 |
| NC_000005.9:g.14871641_14871647del , CM000667.1:g.14871641_14871647del | GRCh37 |
| NC_000005.8:g.14924641_14924647del | NCBI36 |
| NG_008273.1:g.5243_5249del | |
| NG_008273.2:g.5250_5256del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.-89_-83del MANE Select | ENSP00000284268.6:n.-89_-83del | |
| ENST00000284268.6:c.-89_-83del | ENSP00000284268.6:n.-89_-83del | |
| ENST00000505140.1:c.-89_-83del | ENSP00000426332.1:n.-89_-83del | |
| NM_054027.4:c.-89_-83del | NP_473368.1:n.-89_-83del | |
| XM_011514067.1:c.-89_-83del | XP_011512369.1:n.-89_-83del | |
| NM_054027.5:c.-89_-83del | NP_473368.1:n.-89_-83del | |
| NM_054027.6:c.-89_-83del MANE Select | NP_473368.1:n.-89_-83del |