Linked Data
ClinVar Variation Id:
2175197
ClinVar RCV Id:
RCV002602272
dbSNP Id:
rs757447857
ExAC:
10:27410386 G / GA
gnomAD v2:
10-27410386-G-GA
gnomAD v3:
10-27121457-G-GA
gnomAD v4:
10-27121457-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27121465dup , CM000672.2:g.27121465dup | GRCh38 |
| NC_000010.10:g.27410394dup , CM000672.1:g.27410394dup | GRCh37 |
| NC_000010.9:g.27450400dup | NCBI36 |
| NG_047122.1:g.38821dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376016.8:c.1236-10dup MANE Select | ENSP00000365184.3:n.1236-10dup | |
| ENST00000326799.7:c.1407-10dup | ENSP00000318480.3:n.1407-10dup | |
| ENST00000375972.7:c.1407-10dup | ENSP00000365139.4:n.1407-10dup | |
| ENST00000376016.7:c.1236-10dup | ENSP00000365184.3:n.1236-10dup | |
| ENST00000613434.4:c.1137-10dup | ENSP00000481724.1:n.1137-10dup | |
| NM_001253866.1:c.1137-10dup | NP_001240795.1:n.1137-10dup | |
| NM_014263.3:c.1236-10dup | NP_055078.1:n.1236-10dup | |
| NM_139312.2:c.1407-10dup | NP_647473.1:n.1407-10dup | |
| XM_011519300.1:c.1308-10dup | XP_011517602.1:n.1308-10dup | |
| XM_011519300.3:c.1308-10dup | XP_011517602.1:n.1308-10dup | |
| NM_014263.4:c.1236-10dup MANE Select | NP_055078.1:n.1236-10dup | |
| NM_139312.3:c.1407-10dup | NP_647473.1:n.1407-10dup | |
| NM_001253866.2:c.1137-10dup | NP_001240795.1:n.1137-10dup |