Linked Data
ClinVar Variation Id:
217516
ClinVar RCV Id:
RCV000201608
dbSNP Id:
rs863225128
gnomAD v2:
5-68805167-GC-G
gnomAD v4:
5-69509340-GC-G
MyVariant Identifiers:
chr5:g.68805169del (hg19)
chr5:g.68805168del (hg19)
chr5:g.69509342del (hg38)
chr5:g.69509341del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.69509342del , CM000667.2:g.69509342del | GRCh38 |
| NC_000005.9:g.68805169del , CM000667.1:g.68805169del | GRCh37 |
| NC_000005.8:g.68840925del | NCBI36 |
| NG_028291.1:g.22051del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396442.7:c.252del MANE Select | ENSP00000379719.2:p.Ser85ProfsTer14 | |
| ENST00000680027.1:c.252del | ENSP00000506162.1:p.Ser85ProfsTer14 | |
| ENST00000680098.1:c.252del | ENSP00000506561.1:p.Ser85ProfsTer14 | |
| ENST00000680496.1:c.252del | ENSP00000504966.1:p.Ser85ProfsTer14 | |
| ENST00000680784.1:c.252del | ENSP00000506305.1:p.Ser85ProfsTer14 | |
| ENST00000681041.1:c.252del | ENSP00000505426.1:p.Ser85ProfsTer14 | |
| ENST00000681586.1:c.252del | ENSP00000505541.1:p.Ser85ProfsTer14 | |
| ENST00000681588.1:c.252del | ENSP00000506017.1:p.Ser85ProfsTer14 | |
| ENST00000681895.1:c.252del | ENSP00000505831.1:p.Ser85ProfsTer14 | |
| ENST00000355237.6:c.252del | ENSP00000347379.2:p.Ser85ProfsTer14 | |
| ENST00000396442.6:c.252del | ENSP00000379719.2:p.Ser85ProfsTer14 | |
| ENST00000538151.2:c.-24-4606del | ENSP00000445940.1:n.-24-4606del | |
| NM_001205254.1:c.252del | NP_001192183.1:p.Ser85ProfsTer14 | |
| NM_001205255.1:c.-24-4606del | NP_001192184.1:n.-24-4606del | |
| NM_002538.3:c.252del | NP_002529.1:p.Ser85ProfsTer14 | |
| XM_017008913.2:c.252del | XP_016864402.1:p.Ser85ProfsTer14 | |
| XM_017008914.2:c.252del | XP_016864403.1:p.Ser85ProfsTer14 | |
| NM_001205254.2:c.252del MANE Select | NP_001192183.1:p.Ser85ProfsTer14 | |
| NM_002538.4:c.252del | NP_002529.1:p.Ser85ProfsTer14 |