Linked Data
ClinVar Variation Id:
66603
ClinVar RCV Id:
RCV000057028
dbSNP Id:
rs267607408
gnomAD v4:
17-41612361-CACCACCAGCAAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612369_41612380del , CM000679.2:g.41612369_41612380del | GRCh38 |
| NC_000017.10:g.39768621_39768632del , CM000679.1:g.39768621_39768632del | GRCh37 |
| NC_000017.9:g.37022147_37022158del | NCBI36 |
| NG_008301.1:g.5455_5466del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.316_327del MANE Select | ENSP00000301653.3:p.Phe106_Gly109del | |
| ENST00000301653.8:c.316_327del | ENSP00000301653.3:p.Phe106_Gly109del | |
| ENST00000588319.1:n.393_404del | ||
| ENST00000593067.1:c.-312-87_-312-76del | ENSP00000467124.1:n.-312-87_-312-76del | |
| NM_005557.3:c.316_327del | NP_005548.2:p.Phe106_Gly109del | |
| NM_005557.4:c.316_327del MANE Select | NP_005548.2:p.Phe106_Gly109del |