Linked Data
ClinVar Variation Id:
218166
ClinVar RCV Id:
RCV000202390
dbSNP Id:
rs863225444
PubMed:
PMID:26510951
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43934787_43934789del , CM000664.2:g.43934787_43934789del | GRCh38 |
| NC_000002.11:g.44161926_44161928del , CM000664.1:g.44161926_44161928del | GRCh37 |
| NC_000002.10:g.44015430_44015432del | NCBI36 |
| NG_008247.1:g.66218_66220del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681961.1:n.2615_2617del | ||
| ENST00000682303.1:c.*2381_*2383del | ENSP00000508325.1:n.*2381_*2383del | |
| ENST00000682308.1:c.2595_2597del | ENSP00000507056.1:p.Val866del | |
| ENST00000682480.1:c.2595_2597del | ENSP00000508344.1:p.Val866del | |
| ENST00000682546.1:c.2592_2594del | ENSP00000508188.1:p.Val865del | |
| ENST00000682585.1:c.2595_2597del | ENSP00000506885.1:p.Val866del | |
| ENST00000682595.1:n.3177_3179del | ||
| ENST00000682607.1:c.1013_1015del | ||
| ENST00000682779.1:c.2586_2588del | ENSP00000507947.1:p.Val863del | |
| ENST00000682845.1:n.1697_1699del | ||
| ENST00000682885.1:c.2550_2552del | ENSP00000508036.1:p.Val851del | |
| ENST00000682933.1:n.2669_2671del | ||
| ENST00000683072.1:n.3177_3179del | ||
| ENST00000683125.1:c.2595_2597del | ENSP00000507939.1:p.Val866del | |
| ENST00000683213.1:c.2598_2600del | ENSP00000507751.1:p.Val867del | |
| ENST00000683220.1:c.2625_2627del | ENSP00000507151.1:p.Val876del | |
| ENST00000683329.1:n.3398_3400del | ||
| ENST00000683346.1:c.*2470_*2472del | ENSP00000507458.1:n.*2470_*2472del | |
| ENST00000683459.1:n.3182_3184del | ||
| ENST00000683590.1:c.2595_2597del | ENSP00000506820.1:p.Val866del | |
| ENST00000683623.1:c.2502_2504del | ENSP00000507702.1:p.Val835del | |
| ENST00000683645.1:n.3146_3148del | ||
| ENST00000683694.1:n.1346_1348del | ||
| ENST00000683796.1:c.*2467_*2469del | ENSP00000508221.1:n.*2467_*2469del | |
| ENST00000683802.1:n.5520_5522del | ||
| ENST00000683833.1:c.2586_2588del | ENSP00000506852.1:p.Val863del | |
| ENST00000683989.1:c.2595_2597del | ENSP00000507510.1:p.Val866del | |
| ENST00000683994.1:c.2595_2597del | ENSP00000507181.1:p.Val866del | |
| ENST00000684290.1:c.*289_*291del | ENSP00000507243.1:n.*289_*291del | |
| ENST00000684306.1:c.*2508_*2510del | ENSP00000508384.1:n.*2508_*2510del | |
| ENST00000684341.1:n.2615_2617del | ||
| ENST00000684383.1:c.*2233_*2235del | ENSP00000506863.1:n.*2233_*2235del | |
| ENST00000684397.1:c.299_301del | ||
| ENST00000684619.1:c.*2467_*2469del | ENSP00000508088.1:n.*2467_*2469del | |
| ENST00000684743.1:n.3626_3628del | ||
| ENST00000260665.12:c.2595_2597del MANE Select | ENSP00000260665.7:p.Val866del | |
| ENST00000260665.11:c.2595_2597del | ENSP00000260665.7:p.Val866del | |
| NM_133259.3:c.2595_2597del | NP_573566.2:p.Val866del | |
| XM_006711915.2:c.2517_2519del | XP_006711978.1:p.Val840del | |
| XM_006711916.2:c.2595_2597del | XP_006711979.1:p.Val866del | |
| XM_011532473.1:c.2595_2597del | XP_011530775.1:p.Val866del | |
| XM_011532474.1:c.2595_2597del | XP_011530776.1:p.Val866del | |
| XM_006711916.3:c.2595_2597del | XP_006711979.1:p.Val866del | |
| XM_017003117.1:c.2517_2519del | XP_016858606.1:p.Val840del | |
| XR_002958896.1:n.2637_2639del | ||
| NM_133259.4:c.2595_2597del MANE Select | NP_573566.2:p.Val866del |