Linked Data
ClinVar Variation Id:
664891
ClinVar RCV Id:
RCV000823072
dbSNP Id:
rs1576468160
gnomAD v4:
2-188999325-TGGCAGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188999329_188999334del , CM000664.2:g.188999329_188999334del | GRCh38 |
| NC_000002.11:g.189864055_189864060del , CM000664.1:g.189864055_189864060del | GRCh37 |
| NC_000002.10:g.189572300_189572305del | NCBI36 |
| NG_007404.1:g.29957_29962del , LRG_3:g.29957_29962del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.1968_1973del | ENSP00000415346.2:p.Gly657_Ala658del | |
| ENST00000304636.9:c.2067_2072del MANE Select | ENSP00000304408.4:p.Gly690_Ala691del | |
| ENST00000304636.7:c.2067_2072del | ENSP00000304408.3:p.Gly690_Ala691del | |
| ENST00000317840.9:c.2067_2072del | ENSP00000315243.6:p.Gly690_Ala691del | |
| NM_000090.3:c.2067_2072del , LRG_3t1:c.2067_2072del | NP_000081.1:p.Gly690_Ala691del | |
| NM_000090.4:c.2067_2072del MANE Select | NP_000081.2:p.Gly690_Ala691del |