Linked Data
ClinVar Variation Id:
482291
dbSNP Id:
rs1472879431
gnomAD v2:
5-112178419-GAACCTTACCAAACAA-G
gnomAD v4:
5-112842722-GAACCTTACCAAACAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842724_112842738del , CM000667.2:g.112842724_112842738del | GRCh38 |
| NC_000005.9:g.112178421_112178435del , CM000667.1:g.112178421_112178435del | GRCh37 |
| NC_000005.8:g.112206320_112206334del | NCBI36 |
| NG_008481.4:g.155204_155218del , LRG_130:g.155204_155218del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7184_7198del | ENSP00000473355.2:p.Asn2395_Gln2399del | |
| ENST00000505350.2:c.*7136_*7150del | ENSP00000481752.1:n.*7136_*7150del | |
| ENST00000507379.6:c.7076_7090del | ENSP00000423224.2:p.Asn2359_Gln2363del | |
| ENST00000509732.6:c.7130_7144del | ENSP00000426541.2:p.Asn2377_Gln2381del | |
| ENST00000512211.7:c.7130_7144del | ENSP00000423828.3:p.Asn2377_Gln2381del | |
| ENST00000257430.9:c.7130_7144del MANE Select | ENSP00000257430.4:p.Asn2377_Gln2381del | |
| ENST00000257430.8:c.7130_7144del | ENSP00000257430.4:p.Asn2377_Gln2381del | |
| ENST00000508376.6:c.7130_7144del | ENSP00000427089.2:p.Asn2377_Gln2381del | |
| ENST00000508624.5:c.*6452_*6466del | ENSP00000424265.1:n.*6452_*6466del | |
| ENST00000520401.1:c.230+13752_230+13766del | ||
| NM_000038.5:c.7130_7144del | NP_000029.2:p.Asn2377_Gln2381del | |
| NM_001127510.2:c.7130_7144del | NP_001120982.1:p.Asn2377_Gln2381del | |
| NM_001127511.2:c.7076_7090del | NP_001120983.2:p.Asn2359_Gln2363del | |
| NM_001354895.1:c.7130_7144del | NP_001341824.1:p.Asn2377_Gln2381del | |
| NM_001354896.1:c.7184_7198del | NP_001341825.1:p.Asn2395_Gln2399del | |
| NM_001354897.1:c.7160_7174del | NP_001341826.1:p.Asn2387_Gln2391del | |
| NM_001354898.1:c.7055_7069del | NP_001341827.1:p.Asn2352_Gln2356del | |
| NM_001354899.1:c.7046_7060del | NP_001341828.1:p.Asn2349_Gln2353del | |
| NM_001354900.1:c.7007_7021del | NP_001341829.1:p.Asn2336_Gln2340del | |
| NM_001354901.1:c.6953_6967del | NP_001341830.1:p.Asn2318_Gln2322del | |
| NM_001354902.1:c.6857_6871del | NP_001341831.1:p.Asn2286_Gln2290del | |
| NM_001354903.1:c.6827_6841del | NP_001341832.1:p.Asn2276_Gln2280del | |
| NM_001354904.1:c.6752_6766del | NP_001341833.1:p.Asn2251_Gln2255del | |
| NM_001354905.1:c.6650_6664del | NP_001341834.1:p.Asn2217_Gln2221del | |
| NM_001354906.1:c.6281_6295del | NP_001341835.1:p.Asn2094_Gln2098del | |
| NM_000038.6:c.7130_7144del MANE Select | NP_000029.2:p.Asn2377_Gln2381del | |
| NM_001127510.3:c.7130_7144del | NP_001120982.1:p.Asn2377_Gln2381del | |
| NM_001127511.3:c.7076_7090del | NP_001120983.2:p.Asn2359_Gln2363del | |
| NM_001354895.2:c.7130_7144del | NP_001341824.1:p.Asn2377_Gln2381del | |
| NM_001354896.2:c.7184_7198del | NP_001341825.1:p.Asn2395_Gln2399del | |
| NM_001354897.2:c.7160_7174del | NP_001341826.1:p.Asn2387_Gln2391del | |
| NM_001354898.2:c.7055_7069del | NP_001341827.1:p.Asn2352_Gln2356del | |
| NM_001354899.2:c.7046_7060del | NP_001341828.1:p.Asn2349_Gln2353del | |
| NM_001354900.2:c.7007_7021del | NP_001341829.1:p.Asn2336_Gln2340del | |
| NM_001354901.2:c.6953_6967del | NP_001341830.1:p.Asn2318_Gln2322del | |
| NM_001354902.2:c.6857_6871del | NP_001341831.1:p.Asn2286_Gln2290del | |
| NM_001354903.2:c.6827_6841del | NP_001341832.1:p.Asn2276_Gln2280del | |
| NM_001354904.2:c.6752_6766del | NP_001341833.1:p.Asn2251_Gln2255del | |
| NM_001354905.2:c.6650_6664del | NP_001341834.1:p.Asn2217_Gln2221del | |
| NM_001354906.2:c.6281_6295del | NP_001341835.1:p.Asn2094_Gln2098del |