Linked Data
ClinVar Variation Id:
225452
ClinVar RCV Id:
RCV000490434
dbSNP Id:
rs1085307089
gnomAD v2:
6-88273871-GA-G
gnomAD v4:
6-87564153-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.87564155del , CM000668.2:g.87564155del | GRCh38 |
| NC_000006.11:g.88273873del , CM000668.1:g.88273873del | GRCh37 |
| NC_000006.10:g.88330592del | NCBI36 |
| NG_008601.1:g.30864del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000451155.2:c.-337del | ENSP00000389656.2:n.-337del | |
| ENST00000493269.2:n.430del | ||
| ENST00000684790.1:c.-337del | ENSP00000509974.1:n.-337del | |
| ENST00000685069.1:c.-875del | ENSP00000509876.1:n.-875del | |
| ENST00000685219.1:n.225del | ||
| ENST00000685336.1:c.-337del | ENSP00000508757.1:n.-337del | |
| ENST00000685376.1:c.-337del | ENSP00000508661.1:n.-337del | |
| ENST00000685408.1:c.-337del | ENSP00000509026.1:n.-337del | |
| ENST00000685701.1:c.-674del | ENSP00000509573.1:n.-674del | |
| ENST00000685881.1:c.-337del | ENSP00000510572.1:n.-337del | |
| ENST00000686142.1:c.-337del | ENSP00000510793.1:n.-337del | |
| ENST00000686154.1:c.-912del | ENSP00000508436.1:n.-912del | |
| ENST00000686196.1:n.438del | ||
| ENST00000686284.1:c.-633del | ENSP00000510099.1:n.-633del | |
| ENST00000686407.1:c.-871del | ENSP00000509880.1:n.-871del | |
| ENST00000686857.1:c.-337del | ENSP00000509934.1:n.-337del | |
| ENST00000686988.1:c.287del | ENSP00000508830.1:n.287del | |
| ENST00000687078.1:n.209del | ||
| ENST00000687090.1:n.430del | ||
| ENST00000687437.1:c.189del | ENSP00000508968.1:p.Gln64LysfsTer5 | |
| ENST00000687579.1:c.-337del | ENSP00000510257.1:n.-337del | |
| ENST00000687586.1:c.-1318del | ENSP00000508441.1:n.-1318del | |
| ENST00000687729.1:c.-337del | ENSP00000508582.1:n.-337del | |
| ENST00000687909.1:c.189del | ENSP00000508659.1:p.Gln64LysfsTer5 | |
| ENST00000688106.1:c.-757del | ENSP00000509529.1:n.-757del | |
| ENST00000688391.1:n.225del | ||
| ENST00000688532.1:c.-668del | ENSP00000510320.1:n.-668del | |
| ENST00000689174.1:c.-352del | ENSP00000510542.1:n.-352del | |
| ENST00000689206.1:c.-798del | ENSP00000510495.1:n.-798del | |
| ENST00000689561.1:n.430del | ||
| ENST00000689952.1:c.189del | ENSP00000508977.1:p.Gln64LysfsTer5 | |
| ENST00000690205.1:c.*71del | ENSP00000508972.1:n.*71del | |
| ENST00000690555.1:n.225del | ||
| ENST00000690622.1:c.-875del | ENSP00000508528.1:n.-875del | |
| ENST00000690705.1:c.-1037del | ENSP00000509923.1:n.-1037del | |
| ENST00000690884.1:c.-499del | ENSP00000509931.1:n.-499del | |
| ENST00000691205.1:n.209del | ||
| ENST00000691238.1:c.189del | ENSP00000510094.1:p.Gln64LysfsTer5 | |
| ENST00000691259.1:n.427del | ||
| ENST00000691533.1:n.225del | ||
| ENST00000691725.1:c.189del | ENSP00000509453.1:p.Gln64LysfsTer5 | |
| ENST00000691815.1:c.-611del | ENSP00000509579.1:n.-611del | |
| ENST00000692270.1:c.-337del | ENSP00000510055.1:n.-337del | |
| ENST00000692394.1:c.-1028del | ENSP00000509567.1:n.-1028del | |
| ENST00000692684.1:c.-1233del | ENSP00000509712.1:n.-1233del | |
| ENST00000692843.1:c.189del | ENSP00000509592.1:p.Gln64LysfsTer5 | |
| ENST00000693327.1:c.-281del | ENSP00000509195.1:n.-281del | |
| ENST00000693431.1:c.-337del | ENSP00000509147.1:n.-337del | |
| ENST00000693524.1:n.428del | ||
| ENST00000693605.1:c.-916del | ENSP00000510050.1:n.-916del | |
| ENST00000369536.10:c.189del MANE Select | ENSP00000358549.5:p.Gln64LysfsTer5 | |
| ENST00000369536.9:c.189del | ENSP00000358549.5:p.Gln64LysfsTer5 | |
| ENST00000451155.1:c.272del | ||
| NM_020320.3:c.189del | NP_064716.2:p.Gln64LysfsTer5 | |
| XM_005248735.3:c.-337del | XP_005248792.2:n.-337del | |
| XM_005248736.3:c.-281del | XP_005248793.2:n.-281del | |
| XM_005248737.3:c.-281del | XP_005248794.2:n.-281del | |
| XM_011535947.1:c.189del | XP_011534249.1:p.Gln64LysfsTer5 | |
| XM_011535948.1:c.189del | XP_011534250.1:p.Gln64LysfsTer5 | |
| XM_011535949.1:c.189del | XP_011534251.1:p.Gln64LysfsTer5 | |
| XM_011535950.1:c.-337del | XP_011534252.1:n.-337del | |
| XM_011535951.1:c.-337del | XP_011534253.1:n.-337del | |
| XM_011535952.1:c.-875del | XP_011534254.1:n.-875del | |
| XM_011535953.1:c.-611del | XP_011534255.1:n.-611del | |
| XM_011535954.1:c.-611del | XP_011534256.1:n.-611del | |
| XM_011535955.1:c.-534del | XP_011534257.1:n.-534del | |
| XR_241848.1:n.249del | ||
| NM_001318785.1:c.-281del | NP_001305714.1:n.-281del | |
| NM_001350505.1:c.189del | NP_001337434.1:p.Gln64LysfsTer5 | |
| NM_001350506.1:c.-337del | NP_001337435.1:n.-337del | |
| NM_001350507.1:c.-337del | NP_001337436.1:n.-337del | |
| NM_001350508.1:c.-499del | NP_001337437.1:n.-499del | |
| NM_001350509.1:c.-281del | NP_001337438.1:n.-281del | |
| NM_001350510.1:c.-337del | NP_001337439.1:n.-337del | |
| NM_001350511.1:c.-337del | NP_001337440.1:n.-337del | |
| NM_020320.4:c.189del | NP_064716.2:p.Gln64LysfsTer5 | |
| NR_134857.1:n.264del | ||
| NR_146738.1:n.485del | ||
| NR_146739.1:n.485del | ||
| NR_146740.1:n.485del | ||
| NR_146741.1:n.411del | ||
| NR_146742.1:n.485del | ||
| NR_146743.1:n.485del | ||
| NR_146744.1:n.485del | ||
| NR_146745.1:n.485del | ||
| NR_146746.1:n.703del | ||
| NR_146747.1:n.264del | ||
| NR_146748.1:n.485del | ||
| NR_146749.1:n.485del | ||
| NR_146750.1:n.485del | ||
| NR_146751.1:n.485del | ||
| NR_146752.1:n.485del | ||
| NR_146753.1:n.485del | ||
| NR_146754.1:n.485del | ||
| NR_146755.1:n.485del | ||
| NR_146756.1:n.264del | ||
| NR_146757.1:n.411del | ||
| NR_146758.1:n.485del | ||
| NR_146759.1:n.485del | ||
| XM_011535949.3:c.189del | XP_011534251.1:p.Gln64LysfsTer5 | |
| XM_017011073.1:c.-337del | XP_016866562.1:n.-337del | |
| XM_017011074.2:c.-337del | XP_016866563.1:n.-337del | |
| XM_017011075.2:c.-281del | XP_016866564.1:n.-281del | |
| XM_017011076.2:c.-499del | XP_016866565.1:n.-499del | |
| XM_017011077.2:c.-281del | XP_016866566.1:n.-281del | |
| XM_017011078.2:c.-281del | XP_016866567.1:n.-281del | |
| XM_024446494.1:c.-337del | XP_024302262.1:n.-337del | |
| XR_001743517.2:n.228del | ||
| NM_020320.5:c.189del MANE Select | NP_064716.2:p.Gln64LysfsTer5 | |
| NM_001318785.2:c.-281del | NP_001305714.1:n.-281del | |
| NM_001350505.2:c.189del | NP_001337434.1:p.Gln64LysfsTer5 | |
| NM_001350506.2:c.-337del | NP_001337435.1:n.-337del | |
| NM_001350507.2:c.-337del | NP_001337436.1:n.-337del | |
| NM_001350508.2:c.-499del | NP_001337437.1:n.-499del | |
| NM_001350509.2:c.-281del | NP_001337438.1:n.-281del | |
| NM_001350510.2:c.-337del | NP_001337439.1:n.-337del | |
| NM_001350511.2:c.-337del | NP_001337440.1:n.-337del | |
| NR_134857.2:n.219del | ||
| NR_146738.2:n.440del | ||
| NR_146739.2:n.440del | ||
| NR_146740.2:n.440del | ||
| NR_146741.2:n.366del | ||
| NR_146742.2:n.440del | ||
| NR_146743.2:n.440del | ||
| NR_146744.2:n.440del | ||
| NR_146745.2:n.440del | ||
| NR_146746.2:n.658del | ||
| NR_146747.2:n.219del | ||
| NR_146748.2:n.440del | ||
| NR_146749.2:n.440del | ||
| NR_146750.2:n.440del | ||
| NR_146751.2:n.440del | ||
| NR_146752.2:n.440del | ||
| NR_146753.2:n.440del | ||
| NR_146754.2:n.440del | ||
| NR_146755.2:n.440del | ||
| NR_146756.2:n.219del | ||
| NR_146757.2:n.366del | ||
| NR_146758.2:n.440del | ||
| NR_146759.2:n.440del |