Linked Data
ClinVar Variation Id:
2008506
ClinVar RCV Id:
RCV002828667
gnomAD v4:
15-68209729-CATG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68209731_68209733del , CM000677.2:g.68209731_68209733del | GRCh38 |
| NC_000015.9:g.68502069_68502071del , CM000677.1:g.68502069_68502071del | GRCh37 |
| NC_000015.8:g.66289123_66289125del | NCBI36 |
| NG_008764.2:g.52480_52482del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.570_572del MANE Select | ENSP00000249806.5:p.Phe190_Met191delinsLeu | |
| ENST00000562767.2:c.84-12104_84-12102del | ENSP00000456336.1:n.84-12104_84-12102del | |
| ENST00000563917.2:n.412_414del | ||
| ENST00000565471.6:c.111_113del | ENSP00000457384.1:p.Phe37_Met38delinsLeu | |
| ENST00000635747.1:c.*473_*475del | ENSP00000490627.1:n.*473_*475del | |
| ENST00000636212.1:c.*240_*242del | ENSP00000489851.1:n.*240_*242del | |
| ENST00000636314.1:c.266_268del | ENSP00000490295.1:p.Ser89del | |
| ENST00000636674.1:n.1672_1674del | ||
| ENST00000636964.1:n.2098_2100del | ||
| ENST00000637054.1:c.198+8804_198+8806del | ENSP00000490807.1:n.198+8804_198+8806del | |
| ENST00000637223.1:c.*284_*286del | ENSP00000490010.1:n.*284_*286del | |
| ENST00000637329.1:c.539_541del | ||
| ENST00000637450.1:c.*224_*226del | ENSP00000490204.1:n.*224_*226del | |
| ENST00000637494.1:c.282_284del | ENSP00000490057.1:p.Phe94_Met95delinsLeu | |
| ENST00000637667.1:c.471_473del | ENSP00000489843.1:p.Phe157_Met158delinsLeu | |
| ENST00000637823.1:c.395_397del | ||
| ENST00000637888.1:c.198+8804_198+8806del | ENSP00000490546.1:n.198+8804_198+8806del | |
| ENST00000638076.1:c.*173_*175del | ENSP00000490373.1:n.*173_*175del | |
| ENST00000638144.1:n.213_215del | ||
| ENST00000646164.1:c.38+8804_38+8806del | ||
| ENST00000249806.9:c.570_572del | ENSP00000249806.5:p.Phe190_Met191delinsLeu | |
| ENST00000538696.5:c.666_668del | ENSP00000445770.1:p.Phe222_Met223delinsLeu | |
| ENST00000562767.1:c.84-12104_84-12102del | ENSP00000456336.1:n.84-12104_84-12102del | |
| ENST00000563917.1:n.470_472del | ||
| ENST00000564752.1:c.596_598del | ENSP00000457822.1:p.Ser199del | |
| ENST00000565471.5:c.111_113del | ENSP00000457384.1:p.Phe37_Met38delinsLeu | |
| ENST00000566347.5:c.381_383del | ENSP00000457783.1:p.Phe127_Met128delinsLeu | |
| ENST00000567060.5:c.298-12_298-10del | ENSP00000454818.1:n.298-12_298-10del | |
| NM_017882.2:c.570_572del | NP_060352.1:p.Phe190_Met191delinsLeu | |
| XR_931861.1:n.792_794del | ||
| NM_017882.3:c.570_572del MANE Select | NP_060352.1:p.Phe190_Met191delinsLeu |