Linked Data
dbSNP Id:
rs1432832985
gnomAD v2:
9-137734745-ATTG-A
gnomAD v3:
9-134842899-ATTG-A
gnomAD v4:
9-134842899-ATTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134842902_134842904del , CM000671.2:g.134842902_134842904del | GRCh38 |
| NC_000009.11:g.137734748_137734750del , CM000671.1:g.137734748_137734750del | GRCh37 |
| NC_000009.10:g.136874569_136874571del | NCBI36 |
| NG_008030.1:g.206097_206099del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.*599_*601del | ENSP00000360885.4:n.*599_*601del | |
| ENST00000371817.8:c.*599_*601del MANE Select | ENSP00000360882.3:n.*599_*601del | |
| ENST00000371817.7:c.*599_*601del | ENSP00000360882.3:n.*599_*601del | |
| ENST00000618395.4:c.*599_*601del | ENSP00000481360.1:n.*599_*601del | |
| NM_000093.4:c.*599_*601del | NP_000084.3:n.*599_*601del | |
| NM_001278074.1:c.*599_*601del | NP_001265003.1:n.*599_*601del | |
| NR_103451.2:n.71-22693_71-22691del | ||
| NM_000093.5:c.*599_*601del MANE Select | NP_000084.3:n.*599_*601del |