ClinVar RCV:
ClinVar Variation:
dbSNP:
MyVariant.info:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869303_240869311dup , CM000664.2:g.240869303_240869311dup | GRCh38 |
| NC_000002.11:g.241808720_241808728dup , CM000664.1:g.241808720_241808728dup | GRCh37 |
| NC_000002.10:g.241457393_241457401dup | NCBI36 |
| NG_008005.1:g.5559_5567dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.299_307dup MANE Select | ENSP00000302620.3:p.Val102_Gly103insValLeuVal | |
| ENST00000307503.3:c.299_307dup | ENSP00000302620.3:p.Val102_Gly103insValLeuVal | |
| ENST00000472436.1:n.319_327dup | ||
| NM_000030.2:c.299_307dup | NP_000021.1:p.Val102_Gly103insValLeuVal | |
| XR_924060.1:n.405+922_405+930dup | ||
| NM_000030.3:c.299_307dup MANE Select | NP_000021.1:p.Val102_Gly103insValLeuVal |