Linked Data
dbSNP Id:
rs1363748977
gnomAD v3:
22-20888311-T-TCTCACACACACACACACACA
gnomAD v4:
22-20888311-T-TCTCACACACACACACACACA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20888312_20888313insTCACACACACACACACACAC , CM000684.2:g.20888312_20888313insTCACACACACACACACACAC | GRCh38 |
| NC_000022.10:g.21242600_21242601insTCACACACACACACACACAC , CM000684.1:g.21242600_21242601insTCACACACACACACACACAC | GRCh37 |
| NC_000022.9:g.19572600_19572601insTCACACACACACACACACAC | NCBI36 |
| NG_012152.1:g.34309_34310insTCACACACACACACACACAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215730.12:c.*476_*477insTCACACACACACACACACAC MANE Select | ENSP00000215730.6:n.*476_*477insTCACACACACACACACACAC | |
| ENST00000215730.11:c.*476_*477insTCACACACACACACACACAC | ENSP00000215730.6:n.*476_*477insTCACACACACACACACACAC | |
| NM_004782.3:c.*476_*477insTCACACACACACACACACAC | NP_004773.1:n.*476_*477insTCACACACACACACACACAC | |
| NM_004782.4:c.*476_*477insTCACACACACACACACACAC MANE Select | NP_004773.1:n.*476_*477insTCACACACACACACACACAC |