Linked Data
ClinVar Variation Id:
427789
ClinVar RCV Id:
RCV000490805
dbSNP Id:
rs1114167450
gnomAD v2:
18-61030043-CCTT-C
gnomAD v4:
18-63362810-CCTT-C
PubMed:
PMID:28575652
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.63362811_63362813del , CM000680.2:g.63362811_63362813del | GRCh38 |
| NC_000018.9:g.61030044_61030046del , CM000680.1:g.61030044_61030046del | GRCh37 |
| NC_000018.8:g.59181024_59181026del | NCBI36 |
| NG_028249.1:g.9461_9463del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000591902.6:c.164_166del | ENSP00000468203.2:p.Gln55_Gly56delinsArg | |
| ENST00000644624.1:c.*103_*105del | ENSP00000494878.1:n.*103_*105del | |
| ENST00000645214.2:c.164_166del MANE Select | ENSP00000494352.1:p.Gln55_Gly56delinsArg | |
| ENST00000646205.1:c.*314_*316del | ENSP00000496260.1:n.*314_*316del | |
| ENST00000326575.9:c.164_166del | ENSP00000312939.5:p.Gln55_Gly56delinsArg | |
| ENST00000406396.7:c.164_166del | ENSP00000385083.2:p.Gln55_Gly56delinsArg | |
| ENST00000585456.1:n.174_176del | ||
| ENST00000589530.5:n.249_251del | ||
| ENST00000592327.1:c.164_166del | ENSP00000467962.1:p.Gln55_Gly56delinsArg | |
| NM_002035.2:c.164_166del | NP_002026.1:p.Gln55_Gly56delinsArg | |
| XM_005266677.1:c.164_166del | XP_005266734.1:p.Gln55_Gly56delinsArg | |
| XM_006722433.2:c.77_79del | XP_006722496.1:p.Gln26_Gly27delinsArg | |
| NM_002035.4:c.164_166del MANE Select | NP_002026.1:p.Gln55_Gly56delinsArg | |
| XM_005266677.3:c.164_166del | XP_005266734.1:p.Gln55_Gly56delinsArg | |
| XM_017025690.2:c.-68_-66del | XP_016881179.1:n.-68_-66del |