Linked Data
ClinVar Variation Id:
229131
dbSNP Id:
rs770322907
ExAC:
10:55566453 G / GTCAA
gnomAD v2:
10-55566453-G-GTCAA
gnomAD v3:
10-53806693-G-GTCAA
gnomAD v4:
10-53806693-G-GTCAA
MyVariant Identifiers:
chr10:g.55566454_55566457dupTCAA (hg19)
chr10:g.55566453_55566454insTCAA (hg19)
chr10:g.53806697_53806700dupATCA (hg38)
chr10:g.53806694_53806697dupTCAA (hg38)
chr10:g.53806693_53806694insTCAA (hg38)
PubMed:
PMID:25307757
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53806697_53806700dup , CM000672.2:g.53806697_53806700dup | GRCh38 |
| NC_000010.10:g.55566457_55566460dup , CM000672.1:g.55566457_55566460dup | GRCh37 |
| NC_000010.9:g.55236463_55236466dup | NCBI36 |
| NG_009191.2:g.999595_999598dup | |
| NG_009191.3:g.1827486_1827489dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642496.1:c.3964_3967dup | ||
| ENST00000644397.2:c.5105_5108dup MANE Select | ENSP00000495195.1:p.Ser1704Ter | |
| ENST00000373965.6:c.4916_4919dup | ENSP00000363076.3:p.Ser1641Ter | |
| ENST00000414778.5:c.4913_4916dup | ENSP00000410304.2:p.Ser1640Ter | |
| ENST00000495484.5:c.1133_1136dup | ENSP00000480780.1:p.Ser380Ter | |
| ENST00000614895.4:c.4928_4931dup | ENSP00000478512.1:p.Ser1645Ter | |
| ENST00000616114.4:c.4910_4913dup | ENSP00000483745.1:p.Ser1639Ter | |
| ENST00000618301.4:c.1265_1268dup | ENSP00000482780.1:p.Ser424Ter | |
| ENST00000621708.4:c.4931_4934dup | ENSP00000484454.1:p.Ser1646Ter | |
| NM_001142771.1:c.4931_4934dup | NP_001136243.1:p.Ser1646Ter | |
| NM_001142772.1:c.4916_4919dup | NP_001136244.1:p.Ser1641Ter | |
| NM_001354420.1:c.4910_4913dup | NP_001341349.1:p.Ser1639Ter | |
| NM_001354429.1:c.5039_5042dup | NP_001341358.1:p.Ser1682Ter | |
| XR_001747192.2:n.11397_11400dup | ||
| XR_001747193.2:n.11388_11391dup | ||
| NM_001142771.2:c.4931_4934dup | NP_001136243.1:p.Ser1646Ter | |
| NM_001142772.2:c.4916_4919dup | NP_001136244.1:p.Ser1641Ter | |
| NM_001354420.2:c.4910_4913dup | NP_001341349.1:p.Ser1639Ter | |
| NM_001354429.2:c.5039_5042dup | NP_001341358.1:p.Ser1682Ter | |
| NM_001384140.1:c.5105_5108dup MANE Select | NP_001371069.1:p.Ser1704Ter |