Linked Data
ClinVar Variation Id:
2214
ClinVar RCV Id:
RCV000002298
dbSNP Id:
rs794729660
PubMed:
PMID:7784063
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10142070_10142072del , CM000665.2:g.10142070_10142072del | GRCh38 |
| NC_000003.11:g.10183754_10183756del , CM000665.1:g.10183754_10183756del | GRCh37 |
| NC_000003.10:g.10158754_10158756del | NCBI36 |
| NG_008212.3:g.5436_5438del , LRG_322:g.5436_5438del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.223_225del | ENSP00000512434.1:p.Ile75del | |
| ENST00000696143.1:c.223_225del | ENSP00000512435.1:p.Ile75del | |
| ENST00000696153.1:c.223_225del | ENSP00000512444.1:p.Ile75del | |
| ENST00000256474.3:c.223_225del MANE Select | ENSP00000256474.3:p.Ile75del | |
| ENST00000256474.2:c.223_225del | ENSP00000256474.2:p.Ile75del | |
| ENST00000345392.2:c.223_225del | ENSP00000344757.2:p.Ile75del | |
| NM_000551.3:c.223_225del , LRG_322t1:c.223_225del | NP_000542.1:p.Ile75del | |
| NM_198156.2:c.223_225del | NP_937799.1:p.Ile75del | |
| XM_011534078.1:c.223_225del | XP_011532380.1:p.Ile75del | |
| NM_001354723.1:c.223_225del | NP_001341652.1:p.Ile75del | |
| NM_000551.4:c.223_225del MANE Select | NP_000542.1:p.Ile75del | |
| NM_001354723.2:c.223_225del | NP_001341652.1:p.Ile75del | |
| NM_198156.3:c.223_225del | NP_937799.1:p.Ile75del |