Linked Data
dbSNP Id:
rs1384462002
MyVariant Identifiers:
chr10:g.55566007_55566008insTCTATG (hg19)
chr10:g.53806247_53806248insTCTATG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53806249_53806254dup , CM000672.2:g.53806249_53806254dup | GRCh38 |
| NC_000010.10:g.55566009_55566014dup , CM000672.1:g.55566009_55566014dup | GRCh37 |
| NC_000010.9:g.55236015_55236020dup | NCBI36 |
| NG_009191.2:g.1000039_1000044dup | |
| NG_009191.3:g.1827930_1827935dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644397.2:c.*326_*331dup MANE Select | ENSP00000495195.1:n.*326_*331dup | |
| ENST00000373965.6:c.*326_*331dup | ENSP00000363076.3:n.*326_*331dup | |
| ENST00000414778.5:c.*326_*331dup | ENSP00000410304.2:n.*326_*331dup | |
| ENST00000614895.4:c.*326_*331dup | ENSP00000478512.1:n.*326_*331dup | |
| ENST00000616114.4:c.*326_*331dup | ENSP00000483745.1:n.*326_*331dup | |
| NM_001142771.1:c.*326_*331dup | NP_001136243.1:n.*326_*331dup | |
| NM_001142772.1:c.*326_*331dup | NP_001136244.1:n.*326_*331dup | |
| NM_001354420.1:c.*326_*331dup | NP_001341349.1:n.*326_*331dup | |
| NM_001354429.1:c.*326_*331dup | NP_001341358.1:n.*326_*331dup | |
| XR_001747192.2:n.11841_11846dup | ||
| XR_001747193.2:n.11832_11837dup | ||
| NM_001142771.2:c.*326_*331dup | NP_001136243.1:n.*326_*331dup | |
| NM_001142772.2:c.*326_*331dup | NP_001136244.1:n.*326_*331dup | |
| NM_001354420.2:c.*326_*331dup | NP_001341349.1:n.*326_*331dup | |
| NM_001354429.2:c.*326_*331dup | NP_001341358.1:n.*326_*331dup | |
| NM_001384140.1:c.*326_*331dup MANE Select | NP_001371069.1:n.*326_*331dup |