Linked Data
ClinVar Variation Id:
1076598
ClinVar RCV Id:
RCV001390547
dbSNP Id:
rs770874039
ExAC:
8:145741454 CT / C
gnomAD v2:
8-145741454-CT-C
gnomAD v3:
8-144516070-CT-C
gnomAD v4:
8-144516070-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144516071del , CM000670.2:g.144516071del | GRCh38 |
| NC_000008.10:g.145741455del , CM000670.1:g.145741455del | GRCh37 |
| NC_000008.9:g.145712263del | NCBI36 |
| NG_016430.1:g.6756del | |
| NG_033083.1:g.3107del | |
| NG_016430.2:g.6756del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617875.6:c.1048del MANE Select | ENSP00000482313.2:p.Arg350GlyfsTer9 | |
| ENST00000524998.1:c.570del | ||
| ENST00000617875.4:c.1048del | ENSP00000482313.1:p.Arg350GlyfsTer9 | |
| ENST00000621189.4:c.-24del | ENSP00000483145.1:n.-24del | |
| NM_004260.3:c.1048del | NP_004251.3:p.Arg350GlyfsTer9 | |
| XM_011517380.1:c.1048del | XP_011515682.1:p.Arg350GlyfsTer9 | |
| XM_011517381.1:c.954-2del | XP_011515683.1:n.954-2del | |
| XM_011517382.1:c.1048del | XP_011515684.1:p.Arg350GlyfsTer9 | |
| XM_011517383.1:c.1048del | XP_011515685.1:p.Arg350GlyfsTer9 | |
| XM_011517384.1:c.1048del | XP_011515686.1:p.Arg350GlyfsTer9 | |
| XM_011517385.1:c.-86del | XP_011515687.1:n.-86del | |
| XR_928366.1:n.1089del | ||
| XR_928367.1:n.1089del | ||
| XR_928368.1:n.1091del | ||
| XM_011517384.3:c.1048del | XP_011515686.1:p.Arg350GlyfsTer9 | |
| XM_017013991.2:c.1048del | XP_016869480.1:p.Arg350GlyfsTer9 | |
| XM_017013992.2:c.1048del | XP_016869481.1:p.Arg350GlyfsTer9 | |
| XM_017013993.2:c.1048del | XP_016869482.1:p.Arg350GlyfsTer9 | |
| XM_017013994.2:c.954-2del | XP_016869483.1:n.954-2del | |
| XM_017013995.2:c.1048del | XP_016869484.1:p.Arg350GlyfsTer9 | |
| XM_017013996.2:c.1048del | XP_016869485.1:p.Arg350GlyfsTer9 | |
| XM_017013997.2:c.1048del | XP_016869486.1:p.Arg350GlyfsTer9 | |
| XM_017013998.1:c.1048del | XP_016869487.1:p.Arg350GlyfsTer9 | |
| XM_017013999.2:c.1048del | XP_016869488.1:p.Arg350GlyfsTer9 | |
| XM_017014000.1:c.-86del | XP_016869489.1:n.-86del | |
| XM_017014001.2:c.-86del | XP_016869490.1:n.-86del | |
| XR_001745626.2:n.1085del | ||
| XR_001745627.2:n.1085del | ||
| XR_001745628.2:n.1085del | ||
| XR_001745629.2:n.1085del | ||
| XR_001745630.2:n.1085del | ||
| NM_004260.4:c.1048del MANE Select | NP_004251.4:p.Arg350GlyfsTer9 |