Linked Data
dbSNP Id:
rs10632923
MyVariant Identifiers:
chr1:g.215990630_215990631insATAT (hg19)
chr1:g.215817288_215817289insATAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215817298_215817301dup , CM000663.2:g.215817298_215817301dup | GRCh38 |
| NC_000001.10:g.215990640_215990643dup , CM000663.1:g.215990640_215990643dup | GRCh37 |
| NC_000001.9:g.214057263_214057266dup | NCBI36 |
| NG_009497.1:g.611105_611108dup | |
| NG_009497.2:g.611157_611160dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.9372-97_9372-94dup MANE Select | ENSP00000305941.3:n.9372-97_9372-94dup | |
| ENST00000674083.1:c.9372-97_9372-94dup | ENSP00000501296.1:n.9372-97_9372-94dup | |
| ENST00000307340.7:c.9372-97_9372-94dup | ENSP00000305941.3:n.9372-97_9372-94dup | |
| NM_206933.2:c.9372-97_9372-94dup | NP_996816.2:n.9372-97_9372-94dup | |
| NM_206933.3:c.9372-97_9372-94dup | NP_996816.2:n.9372-97_9372-94dup | |
| NM_206933.4:c.9372-97_9372-94dup MANE Select | NP_996816.3:n.9372-97_9372-94dup |