Linked Data
ClinVar Variation Id:
24303
ClinVar RCV Id:
RCV000681894
dbSNP Id:
rs104886065
PubMed:
PMID:8651296
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108577977del , CM000685.2:g.108577977del | GRCh38 |
| NC_000023.10:g.107821207del , CM000685.1:g.107821207del | GRCh37 |
| NC_000023.9:g.107707863del | NCBI36 |
| NG_011977.1:g.143054del | |
| NG_011977.2:g.143054del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328300.11:c.635del MANE Select | ENSP00000331902.7:p.Pro212GlnfsTer9 | |
| ENST00000361603.7:c.635del | ENSP00000354505.2:p.Pro212GlnfsTer9 | |
| ENST00000328300.10:c.635del | ENSP00000331902.6:p.Pro212GlnfsTer9 | |
| ENST00000361603.6:c.635del | ENSP00000354505.2:p.Pro212GlnfsTer9 | |
| NM_000495.4:c.635del | NP_000486.1:p.Pro212GlnfsTer9 | |
| NM_033380.2:c.635del | NP_203699.1:p.Pro212GlnfsTer9 | |
| XM_005262070.2:c.635del | XP_005262127.1:p.Pro212GlnfsTer9 | |
| XM_005262072.3:c.635del | XP_005262129.1:p.Pro212GlnfsTer9 | |
| XM_006724616.2:c.635del | XP_006724679.1:p.Pro212GlnfsTer9 | |
| XM_011530849.1:c.311del | XP_011529151.1:p.Pro104GlnfsTer9 | |
| XM_011530850.1:c.635del | XP_011529152.1:p.Pro212GlnfsTer9 | |
| XM_011530849.2:c.650del | XP_011529151.2:p.Pro217GlnfsTer9 | |
| XM_017029259.2:c.650del | XP_016884748.1:p.Pro217GlnfsTer9 | |
| XM_017029260.1:c.650del | XP_016884749.1:p.Pro217GlnfsTer9 | |
| XM_017029261.1:c.650del | XP_016884750.1:p.Pro217GlnfsTer9 | |
| XM_017029262.2:c.650del | XP_016884751.1:p.Pro217GlnfsTer9 | |
| NM_000495.5:c.635del | NP_000486.1:p.Pro212GlnfsTer9 | |
| NM_033380.3:c.635del MANE Select | NP_203699.1:p.Pro212GlnfsTer9 |