Linked Data
ClinVar Variation Id:
1533324
ClinVar RCV Id:
RCV002107187
dbSNP Id:
rs1937990404
gnomAD v3:
22-36758419-CAGTTTAAA-C
gnomAD v4:
22-36758419-CAGTTTAAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36758421_36758428del , CM000684.2:g.36758421_36758428del | GRCh38 |
| NC_000022.10:g.37154465_37154472del , CM000684.1:g.37154465_37154472del | GRCh37 |
| NC_000022.9:g.35484411_35484418del | NCBI36 |
| NG_034205.1:g.22707_22714del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433985.7:c.463-18_463-11del (IFT27) MANE Select | ENSP00000393541.2:n.463-18_463-11del | |
| ENST00000340630.9:c.460-18_460-11del (IFT27) | ENSP00000343593.5:n.460-18_460-11del | |
| ENST00000415653.5:c.462-18_462-11del (IFT27) | ||
| ENST00000433985.6:c.463-18_463-11del (IFT27) | ENSP00000393541.2:n.463-18_463-11del | |
| ENST00000471809.5:n.6259_6266del (IFT27) | ||
| ENST00000474616.5:n.260-18_260-11del (IFT27) | ||
| ENST00000495555.6:n.546-18_546-11del (IFT27) | ||
| ENST00000495987.5:n.163-18_163-11del (IFT27) | ||
| NM_001177701.2:c.463-18_463-11del (IFT27) | NP_001171172.1:n.463-18_463-11del | |
| NM_006860.4:c.460-18_460-11del (IFT27) | NP_006851.1:n.460-18_460-11del | |
| XM_006724106.2:c.463-18_463-11del (IFT27) | XP_006724169.1:n.463-18_463-11del | |
| NM_001363003.1:c.463-18_463-11del (IFT27) | NP_001349932.1:n.463-18_463-11del | |
| NR_134623.1:n.238-7923_238-7916del (CACNG2-DT) | ||
| XM_017028540.2:c.340-18_340-11del (IFT27) | XP_016884029.1:n.340-18_340-11del | |
| NM_001177701.3:c.463-18_463-11del (IFT27) MANE Select | NP_001171172.1:n.463-18_463-11del | |
| NM_001363003.2:c.463-18_463-11del (IFT27) | NP_001349932.1:n.463-18_463-11del | |
| NM_006860.5:c.460-18_460-11del (IFT27) | NP_006851.1:n.460-18_460-11del |