Linked Data
dbSNP Id:
rs1247417237
gnomAD v3:
10-53806272-A-ATGAT
gnomAD v4:
10-53806272-A-ATGAT
MyVariant Identifiers:
chr10:g.55566032_55566033insTGAT (hg19)
chr10:g.53806272_53806273insTGAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53806274_53806277dup , CM000672.2:g.53806274_53806277dup | GRCh38 |
| NC_000010.10:g.55566034_55566037dup , CM000672.1:g.55566034_55566037dup | GRCh37 |
| NC_000010.9:g.55236040_55236043dup | NCBI36 |
| NG_009191.2:g.1000016_1000019dup | |
| NG_009191.3:g.1827907_1827910dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644397.2:c.*303_*306dup MANE Select | ENSP00000495195.1:n.*303_*306dup | |
| ENST00000373965.6:c.*303_*306dup | ENSP00000363076.3:n.*303_*306dup | |
| ENST00000414778.5:c.*303_*306dup | ENSP00000410304.2:n.*303_*306dup | |
| ENST00000614895.4:c.*303_*306dup | ENSP00000478512.1:n.*303_*306dup | |
| ENST00000616114.4:c.*303_*306dup | ENSP00000483745.1:n.*303_*306dup | |
| NM_001142771.1:c.*303_*306dup | NP_001136243.1:n.*303_*306dup | |
| NM_001142772.1:c.*303_*306dup | NP_001136244.1:n.*303_*306dup | |
| NM_001354420.1:c.*303_*306dup | NP_001341349.1:n.*303_*306dup | |
| NM_001354429.1:c.*303_*306dup | NP_001341358.1:n.*303_*306dup | |
| XR_001747192.2:n.11818_11821dup | ||
| XR_001747193.2:n.11809_11812dup | ||
| NM_001142771.2:c.*303_*306dup | NP_001136243.1:n.*303_*306dup | |
| NM_001142772.2:c.*303_*306dup | NP_001136244.1:n.*303_*306dup | |
| NM_001354420.2:c.*303_*306dup | NP_001341349.1:n.*303_*306dup | |
| NM_001354429.2:c.*303_*306dup | NP_001341358.1:n.*303_*306dup | |
| NM_001384140.1:c.*303_*306dup MANE Select | NP_001371069.1:n.*303_*306dup |