Linked Data
ClinVar Variation Id:
315760
ClinVar RCV Id:
RCV000406867
dbSNP Id:
rs770258605
gnomAD v2:
15-38646366-TTGAGTAAA-T
gnomAD v3:
15-38354165-TTGAGTAAA-T
gnomAD v4:
15-38354165-TTGAGTAAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38354170_38354177del , CM000677.2:g.38354170_38354177del | GRCh38 |
| NC_000015.9:g.38646371_38646378del , CM000677.1:g.38646371_38646378del | GRCh37 |
| NC_000015.8:g.36433663_36433670del | NCBI36 |
| NG_008980.1:g.106320_106327del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299084.9:c.*2506_*2513del MANE Select | ENSP00000299084.4:n.*2506_*2513del | |
| ENST00000299084.8:c.*2506_*2513del | ENSP00000299084.4:n.*2506_*2513del | |
| NM_152594.2:c.*2506_*2513del | NP_689807.1:n.*2506_*2513del | |
| XM_005254202.2:c.*2506_*2513del | XP_005254259.1:n.*2506_*2513del | |
| XM_005254203.3:c.*2506_*2513del | XP_005254260.1:n.*2506_*2513del | |
| XM_011521288.1:c.*2506_*2513del | XP_011519590.1:n.*2506_*2513del | |
| XM_011521289.1:c.*2506_*2513del | XP_011519591.1:n.*2506_*2513del | |
| XM_011521290.1:c.*2506_*2513del | XP_011519592.1:n.*2506_*2513del | |
| XM_005254202.3:c.*2506_*2513del | XP_005254259.1:n.*2506_*2513del | |
| XM_011521289.3:c.*2506_*2513del | XP_011519591.1:n.*2506_*2513del | |
| NM_152594.3:c.*2506_*2513del MANE Select | NP_689807.1:n.*2506_*2513del |