Linked Data
dbSNP Id:
rs762101890
ExAC:
10:124794040 A / AT
gnomAD v2:
10-124794040-A-AT
gnomAD v3:
10-123034524-A-AT
gnomAD v4:
10-123034524-A-AT
MyVariant Identifiers:
chr10:g.124794040_124794041insT (hg19)
chr10:g.123034524_123034525insT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.123034527dup , CM000672.2:g.123034527dup | GRCh38 |
| NC_000010.10:g.124794043dup , CM000672.1:g.124794043dup | GRCh37 |
| NC_000010.9:g.124784033dup | NCBI36 |
| NG_008003.1:g.30615dup , LRG_451:g.30615dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358776.7:c.202+12dup MANE Select | ENSP00000357873.3:n.202+12dup | |
| ENST00000358776.6:c.202+12dup | ENSP00000357873.3:n.202+12dup | |
| ENST00000368869.8:c.-4+12dup | ENSP00000357862.4:n.-4+12dup | |
| ENST00000411816.2:n.219+12dup | ||
| NM_001609.3:c.202+12dup , LRG_451t1:c.202+12dup | NP_001600.1:n.202+12dup | |
| NM_001330174.1:c.-4+12dup | NP_001317103.1:n.-4+12dup | |
| NM_001330174.2:c.-4+12dup | NP_001317103.1:n.-4+12dup | |
| NM_001609.4:c.202+12dup MANE Select | NP_001600.1:n.202+12dup | |
| NM_001330174.3:c.-4+12dup | NP_001317103.1:n.-4+12dup |