Linked Data
ClinVar Variation Id:
553520
dbSNP Id:
rs1374999656
gnomAD v3:
7-107689196-AC-A
gnomAD v4:
7-107689196-AC-A
MyVariant Identifiers:
chr7:g.107329642del (hg19)
chr7:g.107689198del (hg38)
chr7:g.107689197del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107689198del , CM000669.2:g.107689198del | GRCh38 |
| NC_000007.13:g.107329643del , CM000669.1:g.107329643del | GRCh37 |
| NC_000007.12:g.107116879del | NCBI36 |
| NG_008489.1:g.33564del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.1147del MANE Select | ENSP00000494017.1:p.Gln383ArgfsTer? | |
| ENST00000265715.7:c.1147del | ENSP00000265715.3:p.Gln383ArgfsTer? | |
| NM_000441.1:c.1147del | NP_000432.1:p.Gln383ArgfsTer? | |
| XM_005250425.1:c.1147del | XP_005250482.1:p.Gln383ArgfsTer? | |
| XM_006716025.2:c.1147del | XP_006716088.1:p.Gln383ArgfsTer? | |
| XM_005250425.2:c.1147del | XP_005250482.1:p.Gln383ArgfsTer? | |
| XM_006716025.3:c.1147del | XP_006716088.1:p.Gln383ArgfsTer? | |
| XM_017012318.1:c.1147del | XP_016867807.1:p.Gln383ArgfsTer? | |
| NM_000441.2:c.1147del MANE Select | NP_000432.1:p.Gln383ArgfsTer? |