Linked Data
dbSNP Id:
rs2062484693
gnomAD v3:
20-35438373-C-CACACACACACAA
gnomAD v4:
20-35438373-C-CACACACACACAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35438384_35438385insAACACACACACA , CM000682.2:g.35438384_35438385insAACACACACACA | GRCh38 |
| NC_000020.10:g.34026176_34026177insAACACACACACA , CM000682.1:g.34026176_34026177insAACACACACACA | GRCh37 |
| NC_000020.9:g.33489590_33489591insAACACACACACA | NCBI36 |
| NG_008076.2:g.4846_4847insTTGTGTGTGTGT | |
| NG_008076.3:g.21373_21374insTTGTGTGTGTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374372.1:c.-241-205_-241-204insTTGTGTGTGTGT | ENSP00000363492.1:n.-241-205_-241-204insTTGTGTGTGTGT | |
| XM_011529075.1:c.-241-205_-241-204insTTGTGTGTGTGT | XP_011527377.1:n.-241-205_-241-204insTTGTGTGTGTGT | |
| XM_011529076.1:c.-241-205_-241-204insTTGTGTGTGTGT | XP_011527378.1:n.-241-205_-241-204insTTGTGTGTGTGT | |
| NM_001319138.1:c.-241-205_-241-204insTTGTGTGTGTGT | NP_001306067.1:n.-241-205_-241-204insTTGTGTGTGTGT | |
| NM_001319138.2:c.-241-205_-241-204insTTGTGTGTGTGT | NP_001306067.1:n.-241-205_-241-204insTTGTGTGTGTGT |