Linked Data
ClinVar Variation Id:
2683631
ClinVar RCV Id:
RCV003480451
dbSNP Id:
rs773486338
ExAC:
18:55240576 T / TA
gnomAD v2:
18-55240576-T-TA
gnomAD v4:
18-57573344-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57573346dup , CM000680.2:g.57573346dup | GRCh38 |
| NC_000018.9:g.55240578dup , CM000680.1:g.55240578dup | GRCh37 |
| NC_000018.8:g.53391576dup | NCBI36 |
| NG_008175.1:g.18393dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592699.6:c.215dup | ENSP00000466263.1:p.Leu72PhefsTer9 | |
| ENST00000682485.1:n.327dup | ||
| ENST00000262093.11:c.215dup MANE Select | ENSP00000262093.6:p.Leu72PhefsTer9 | |
| ENST00000382873.8:c.-2dup | ENSP00000372326.4:n.-2dup | |
| ENST00000651787.1:n.321dup | ||
| ENST00000652755.1:c.233dup | ENSP00000498358.1:p.Leu78PhefsTer9 | |
| ENST00000262093.9:c.215dup | ENSP00000262093.5:p.Leu72PhefsTer9 | |
| ENST00000382873.7:c.233dup | ENSP00000372326.3:p.Leu78PhefsTer9 | |
| ENST00000585494.5:c.215dup | ENSP00000465243.1:p.Leu72PhefsTer9 | |
| ENST00000585699.1:n.167dup | ||
| ENST00000585747.1:c.215dup | ENSP00000465717.1:p.Leu72PhefsTer9 | |
| ENST00000585878.1:n.267dup | ||
| ENST00000591215.5:c.-2dup | ENSP00000467461.1:n.-2dup | |
| ENST00000592111.1:n.216dup | ||
| ENST00000592699.5:c.215dup | ENSP00000466263.1:p.Leu72PhefsTer9 | |
| NM_000140.3:c.215dup | NP_000131.2:p.Leu72PhefsTer9 | |
| NM_001012515.2:c.233dup | NP_001012533.1:p.Leu78PhefsTer9 | |
| XM_011525881.1:c.233dup | XP_011524183.1:p.Leu78PhefsTer9 | |
| XM_011525882.1:c.-2dup | XP_011524184.1:n.-2dup | |
| NM_000140.4:c.215dup | NP_000131.2:p.Leu72PhefsTer9 | |
| NM_001012515.3:c.233dup | NP_001012533.1:p.Leu78PhefsTer9 | |
| XM_011525882.2:c.-2dup | XP_011524184.1:n.-2dup | |
| XM_017025614.2:c.215dup | XP_016881103.1:p.Leu72PhefsTer9 | |
| NM_000140.5:c.215dup MANE Select | NP_000131.2:p.Leu72PhefsTer9 | |
| NM_001012515.4:c.233dup | NP_001012533.1:p.Leu78PhefsTer9 | |
| NM_001371094.1:c.215dup | NP_001358023.1:p.Leu72PhefsTer9 | |
| NM_001371095.1:c.-2dup | NP_001358024.1:n.-2dup | |
| NM_001374778.1:c.215dup | NP_001361707.1:p.Leu72PhefsTer9 |