Linked Data
ClinVar Variation Id:
361534
ClinVar RCV Id:
RCV000397682
dbSNP Id:
rs755682849
gnomAD v2:
8-116421648-CCCTTT-C
gnomAD v3:
8-115409420-CCCTTT-C
gnomAD v4:
8-115409420-CCCTTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.115409427_115409431del , CM000670.2:g.115409427_115409431del | GRCh38 |
| NC_000008.10:g.116421655_116421659del , CM000670.1:g.116421655_116421659del | GRCh37 |
| NC_000008.9:g.116490831_116490835del | NCBI36 |
| NG_012383.3:g.264577_264581del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395715.8:c.*4598_*4602del MANE Select | ENSP00000379065.3:n.*4598_*4602del | |
| ENST00000640765.1:c.*4598_*4602del | ENSP00000492037.1:n.*4598_*4602del | |
| ENST00000395715.7:c.*4598_*4602del | ENSP00000379065.3:n.*4598_*4602del | |
| NM_001282902.2:c.*4598_*4602del | NP_001269831.1:n.*4598_*4602del | |
| NM_001282903.2:c.*4598_*4602del | NP_001269832.1:n.*4598_*4602del | |
| NM_014112.4:c.*4598_*4602del | NP_054831.2:n.*4598_*4602del | |
| XM_005251049.2:c.*4598_*4602del | XP_005251106.1:n.*4598_*4602del | |
| XM_006716625.1:c.*4598_*4602del | XP_006716688.1:n.*4598_*4602del | |
| XM_011517264.1:c.*4598_*4602del | XP_011515566.1:n.*4598_*4602del | |
| XM_011517265.1:c.*4598_*4602del | XP_011515567.1:n.*4598_*4602del | |
| XM_011517266.1:c.*4598_*4602del | XP_011515568.1:n.*4598_*4602del | |
| XM_011517267.1:c.*4598_*4602del | XP_011515569.1:n.*4598_*4602del | |
| XM_011517268.1:c.*4598_*4602del | XP_011515570.1:n.*4598_*4602del | |
| NM_001330599.1:c.*4598_*4602del | NP_001317528.1:n.*4598_*4602del | |
| XM_011517264.2:c.*4598_*4602del | XP_011515566.1:n.*4598_*4602del | |
| XM_011517266.3:c.*4598_*4602del | XP_011515568.1:n.*4598_*4602del | |
| XM_011517268.2:c.*4598_*4602del | XP_011515570.1:n.*4598_*4602del | |
| NM_001282902.3:c.*4598_*4602del | NP_001269831.1:n.*4598_*4602del | |
| NM_001282903.3:c.*4598_*4602del | NP_001269832.1:n.*4598_*4602del | |
| NM_001330599.2:c.*4598_*4602del | NP_001317528.1:n.*4598_*4602del | |
| NM_014112.5:c.*4598_*4602del MANE Select | NP_054831.2:n.*4598_*4602del |