Linked Data
dbSNP Id:
rs1186493899
gnomAD v2:
2-96917497-CAGAGGGAA-C
gnomAD v3:
2-96251759-CAGAGGGAA-C
gnomAD v4:
2-96251759-CAGAGGGAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96251764_96251771del , CM000664.2:g.96251764_96251771del | GRCh38 |
| NC_000002.11:g.96917502_96917509del , CM000664.1:g.96917502_96917509del | GRCh37 |
| NC_000002.10:g.96281229_96281236del | NCBI36 |
| NG_027695.1:g.19247_19254del , LRG_528:g.19247_19254del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258439.8:c.*2041_*2048del MANE Select | ENSP00000258439.3:n.*2041_*2048del | |
| ENST00000258439.7:c.*2041_*2048del | ENSP00000258439.2:n.*2041_*2048del | |
| ENST00000432959.1:c.*2041_*2048del | ENSP00000416660.1:n.*2041_*2048del | |
| NM_001193304.2:c.*2041_*2048del | NP_001180233.1:n.*2041_*2048del | |
| NM_017849.3:c.*2041_*2048del , LRG_528t1:c.*2041_*2048del | NP_060319.1:n.*2041_*2048del | |
| XM_017004450.1:c.*1342_*1349del | XP_016859939.1:n.*1342_*1349del | |
| XM_017004452.1:c.*2041_*2048del | XP_016859941.1:n.*2041_*2048del | |
| NM_001193304.3:c.*2041_*2048del | NP_001180233.1:n.*2041_*2048del | |
| NM_017849.4:c.*2041_*2048del MANE Select | NP_060319.1:n.*2041_*2048del |