Linked Data
dbSNP Id:
rs1415977362
gnomAD v2:
10-55566166-T-TTGA
gnomAD v3:
10-53806406-T-TTGA
gnomAD v4:
10-53806406-T-TTGA
MyVariant Identifiers:
chr10:g.55566166_55566167insTGA (hg19)
chr10:g.53806406_53806407insTGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53806408_53806410dup , CM000672.2:g.53806408_53806410dup | GRCh38 |
| NC_000010.10:g.55566168_55566170dup , CM000672.1:g.55566168_55566170dup | GRCh37 |
| NC_000010.9:g.55236174_55236176dup | NCBI36 |
| NG_009191.2:g.999883_999885dup | |
| NG_009191.3:g.1827774_1827776dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642496.1:c.4252_4254dup | ||
| ENST00000644397.2:c.*170_*172dup MANE Select | ENSP00000495195.1:n.*170_*172dup | |
| ENST00000373965.6:c.*170_*172dup | ENSP00000363076.3:n.*170_*172dup | |
| ENST00000414778.5:c.*170_*172dup | ENSP00000410304.2:n.*170_*172dup | |
| ENST00000495484.5:c.*170_*172dup | ENSP00000480780.1:n.*170_*172dup | |
| ENST00000614895.4:c.*170_*172dup | ENSP00000478512.1:n.*170_*172dup | |
| ENST00000616114.4:c.*170_*172dup | ENSP00000483745.1:n.*170_*172dup | |
| ENST00000621708.4:c.*170_*172dup | ENSP00000484454.1:n.*170_*172dup | |
| NM_001142771.1:c.*170_*172dup | NP_001136243.1:n.*170_*172dup | |
| NM_001142772.1:c.*170_*172dup | NP_001136244.1:n.*170_*172dup | |
| NM_001354420.1:c.*170_*172dup | NP_001341349.1:n.*170_*172dup | |
| NM_001354429.1:c.*170_*172dup | NP_001341358.1:n.*170_*172dup | |
| XR_001747192.2:n.11685_11687dup | ||
| XR_001747193.2:n.11676_11678dup | ||
| NM_001142771.2:c.*170_*172dup | NP_001136243.1:n.*170_*172dup | |
| NM_001142772.2:c.*170_*172dup | NP_001136244.1:n.*170_*172dup | |
| NM_001354420.2:c.*170_*172dup | NP_001341349.1:n.*170_*172dup | |
| NM_001354429.2:c.*170_*172dup | NP_001341358.1:n.*170_*172dup | |
| NM_001384140.1:c.*170_*172dup MANE Select | NP_001371069.1:n.*170_*172dup |