Linked Data
ClinVar Variation Id:
56387
ClinVar RCV Id:
RCV000049800
dbSNP Id:
rs386833832
ExAC:
2:136574921 GCCACT / G
gnomAD v2:
2-136574921-GCCACT-G
gnomAD v3:
2-135817351-GCCACT-G
gnomAD v4:
2-135817351-GCCACT-G
PubMed:
PMID:19161632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135817354_135817358del , CM000664.2:g.135817354_135817358del | GRCh38 |
| NC_000002.11:g.136574924_136574928del , CM000664.1:g.136574924_136574928del | GRCh37 |
| NC_000002.10:g.136291394_136291398del | NCBI36 |
| NG_008104.2:g.42814_42818del , LRG_338:g.42814_42818del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264162.7:c.1692_1696del MANE Select | ENSP00000264162.2:p.Val565LeufsTer3 | |
| ENST00000264162.6:c.1692_1696del | ENSP00000264162.2:p.Val565LeufsTer3 | |
| NM_002299.2:c.1692_1696del , LRG_338t1:c.1692_1696del | NP_002290.2:p.Val565LeufsTer3 | |
| NM_002299.3:c.1692_1696del | NP_002290.2:p.Val565LeufsTer3 | |
| XM_017004088.2:c.1692_1696del | XP_016859577.1:p.Val565LeufsTer3 | |
| NM_002299.4:c.1692_1696del MANE Select | NP_002290.2:p.Val565LeufsTer3 |