Linked Data
ClinVar Variation Id:
659511
ClinVar RCV Id:
RCV000816533
dbSNP Id:
rs1580888136
gnomAD v3:
5-132387044-C-CG
gnomAD v4:
5-132387044-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132387045dup , CM000667.2:g.132387045dup | GRCh38 |
| NC_000005.9:g.131722737dup , CM000667.1:g.131722737dup | GRCh37 |
| NC_000005.8:g.131750636dup | NCBI36 |
| NG_008982.1:g.22337dup | |
| NG_008982.2:g.22342dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.686dup | ENSP00000388838.2:p.Trp230MetfsTer9 | |
| ENST00000435065.7:c.917dup | ENSP00000402760.2:p.Trp307MetfsTer9 | |
| ENST00000448810.6:c.845dup | ENSP00000401860.2:p.Trp283MetfsTer9 | |
| ENST00000686757.1:c.*9dup | ENSP00000510721.1:n.*9dup | |
| ENST00000687740.1:n.3530dup | ||
| ENST00000688151.1:n.2155dup | ||
| ENST00000689271.1:c.692dup | ENSP00000510797.1:p.Trp232MetfsTer9 | |
| ENST00000690900.1:c.*9dup | ENSP00000510703.1:n.*9dup | |
| ENST00000692212.1:n.789dup | ||
| ENST00000692355.1:c.205-1876dup | ||
| ENST00000692413.1:c.844-17dup | ENSP00000509374.1:n.844-17dup | |
| ENST00000692825.1:c.913dup | ENSP00000509447.1:n.913dup | |
| ENST00000693308.1:c.893dup | ENSP00000509770.1:p.Trp299MetfsTer9 | |
| ENST00000693763.1:n.2005dup | ||
| ENST00000245407.8:c.845dup MANE Select | ENSP00000245407.3:p.Trp283MetfsTer9 | |
| ENST00000245407.7:c.845dup | ENSP00000245407.3:p.Trp283MetfsTer9 | |
| ENST00000415928.5:c.614dup | ENSP00000388838.1:p.Trp206MetfsTer9 | |
| ENST00000435065.6:c.917dup | ENSP00000402760.2:p.Trp307MetfsTer9 | |
| ENST00000437841.6:c.*160dup | ENSP00000400553.1:n.*160dup | |
| ENST00000448810.5:c.193dup | ||
| ENST00000461013.5:n.8267dup | ||
| NM_001308122.1:c.917dup | NP_001295051.1:p.Trp307MetfsTer9 | |
| NM_003060.3:c.845dup | NP_003051.1:p.Trp283MetfsTer9 | |
| XM_011543590.1:c.227dup | XP_011541892.1:p.Trp77MetfsTer9 | |
| XR_427718.1:n.1205dup | ||
| XR_948290.1:n.1186dup | ||
| XR_948291.1:n.1199dup | ||
| XM_011543590.2:c.227dup | XP_011541892.1:p.Trp77MetfsTer9 | |
| XM_017009778.2:c.317dup | XP_016865267.1:p.Trp107MetfsTer9 | |
| XR_001742215.1:n.1186dup | ||
| XR_001742216.1:n.1205dup | ||
| XR_427718.2:n.1205dup | ||
| XR_948290.2:n.1186dup | ||
| XR_948291.2:n.1199dup | ||
| NM_003060.4:c.845dup MANE Select | NP_003051.1:p.Trp283MetfsTer9 | |
| NM_001308122.2:c.917dup | NP_001295051.1:p.Trp307MetfsTer9 |