Linked Data
ClinVar Variation Id:
132084
ClinVar RCV Id:
RCV000118980
dbSNP Id:
rs587777378
ExAC:
2:197777663 TAAG / T
gnomAD v2:
2-197777663-TAAG-T
gnomAD v3:
2-196912939-TAAG-T
gnomAD v4:
2-196912939-TAAG-T
PubMed:
PMID:24784135
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.196912944_196912946del , CM000664.2:g.196912944_196912946del | GRCh38 |
| NC_000002.11:g.197777668_197777670del , CM000664.1:g.197777668_197777670del | GRCh37 |
| NC_000002.10:g.197485913_197485915del | NCBI36 |
| NG_046780.1:g.19054_19056del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354764.9:c.589_591del MANE Select | ENSP00000346809.3:p.Leu197del | |
| ENST00000354764.8:c.589_591del | ENSP00000346809.3:p.Leu197del | |
| ENST00000374738.3:c.147+13528_147+13530del | ENSP00000363870.3:n.147+13528_147+13530de... | |
| ENST00000409188.5:c.463_465del | ENSP00000386802.1:p.Leu155del | |
| ENST00000409475.5:c.589_591del | ENSP00000387028.1:p.Leu197del | |
| ENST00000423035.5:c.*520_*522del | ENSP00000415405.1:n.*520_*522del | |
| ENST00000470179.5:n.271+13528_271+13530del | ||
| ENST00000485830.1:n.733_735del | ||
| NM_024989.3:c.589_591del | NP_079265.2:p.Leu197del | |
| XM_011511878.1:c.589_591del | XP_011510180.1:p.Leu197del | |
| XM_011511879.1:c.67_69del | XP_011510181.1:p.Leu23del | |
| XM_011511880.1:c.589_591del | XP_011510182.1:p.Leu197del | |
| NM_001321099.1:c.67_69del | NP_001308028.1:p.Leu23del | |
| NM_001321100.1:c.-523_-521del | NP_001308029.1:n.-523_-521del | |
| XM_017004992.1:c.67_69del | XP_016860481.1:p.Leu23del | |
| XM_017004993.1:c.67_69del | XP_016860482.1:p.Leu23del | |
| XM_017004994.1:c.-523_-521del | XP_016860483.1:n.-523_-521del | |
| XM_024453156.1:c.-569_-567del | XP_024308924.1:n.-569_-567del | |
| XR_001738959.1:n.968_970del | ||
| XR_001738960.1:n.968_970del | ||
| NM_024989.4:c.589_591del MANE Select | NP_079265.2:p.Leu197del | |
| NM_001321099.2:c.67_69del | NP_001308028.1:p.Leu23del | |
| NM_001321100.2:c.-523_-521del | NP_001308029.1:n.-523_-521del |