Linked Data
ClinVar Variation Id:
578167
ClinVar RCV Id:
RCV000701095
dbSNP Id:
rs782141145
ExAC:
11:118897794 CCTT / C
gnomAD v2:
11-118897794-CCTT-C
gnomAD v3:
11-119027084-CCTT-C
gnomAD v4:
11-119027084-CCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119027086_119027088del , CM000673.2:g.119027086_119027088del | GRCh38 |
| NC_000011.9:g.118897796_118897798del , CM000673.1:g.118897796_118897798del | GRCh37 |
| NC_000011.8:g.118403006_118403008del | NCBI36 |
| NG_013331.1:g.8819_8821del , LRG_187:g.8819_8821del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.864_866del | ||
| ENST00000697845.1:n.788_790del | ||
| ENST00000697846.1:n.864_866del | ||
| ENST00000697847.1:n.864_866del | ||
| ENST00000697848.1:n.864_866del | ||
| ENST00000697849.1:n.1903_1905del | ||
| ENST00000697850.1:n.864_866del | ||
| ENST00000697851.1:n.2224_2226del | ||
| ENST00000638186.1:n.938_940del | ||
| ENST00000638360.1:n.770_772del | ||
| ENST00000638925.1:n.871_873del | ||
| ENST00000650539.1:n.1040_1042del | ||
| ENST00000330775.9:c.634_636del | ENSP00000476242.2:p.Lys212del | |
| ENST00000357590.9:c.634_636del | ENSP00000476176.2:p.Lys212del | |
| ENST00000524428.5:n.956_958del | ||
| ENST00000525039.5:n.1058_1060del | ||
| ENST00000525102.5:n.1392_1394del | ||
| ENST00000525372.5:n.635_637del | ||
| ENST00000526275.5:n.1416_1418del | ||
| ENST00000526626.6:n.597_599del | ||
| ENST00000527992.5:n.862_864del | ||
| ENST00000529510.5:n.408_410del | ||
| ENST00000530407.5:n.784_786del | ||
| ENST00000532085.1:n.3245_3247del | ||
| ENST00000532888.6:n.930_932del | ||
| ENST00000538950.5:c.415_417del | ENSP00000475991.2:p.Lys139del | |
| ENST00000545985.5:c.634_636del | ENSP00000475241.2:p.Lys212del | |
| NM_001164277.1:c.634_636del , LRG_187t1:c.634_636del | NP_001157749.1:p.Lys212del | |
| NM_001164278.1:c.634_636del | NP_001157750.1:p.Lys212del | |
| NM_001164279.1:c.415_417del | NP_001157751.1:p.Lys139del | |
| NM_001164280.1:c.634_636del | NP_001157752.1:p.Lys212del | |
| NM_001467.5:c.634_636del | NP_001458.1:p.Lys212del | |
| NM_001164278.2:c.634_636del | NP_001157750.1:p.Lys212del | |
| NM_001164279.2:c.415_417del | NP_001157751.1:p.Lys139del | |
| NM_001164280.2:c.634_636del | NP_001157752.1:p.Lys212del | |
| NM_001467.6:c.634_636del | NP_001458.1:p.Lys212del | |
| NM_001164277.2:c.634_636del MANE Select | NP_001157749.1:p.Lys212del |