Linked Data
ClinVar Variation Id:
224709
dbSNP Id:
rs869312805
gnomAD v2:
3-10106484-ACCT-A
gnomAD v4:
3-10064800-ACCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10064804_10064806del , CM000665.2:g.10064804_10064806del | GRCh38 |
| NC_000003.11:g.10106488_10106490del , CM000665.1:g.10106488_10106490del | GRCh37 |
| NC_000003.10:g.10081488_10081490del | NCBI36 |
| NG_007311.1:g.43376_43378del , LRG_306:g.43376_43378del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681997.1:n.1181_1183del | ||
| ENST00000683263.1:n.1096_1098del | ||
| ENST00000675286.1:c.2097_2099del MANE Select | ENSP00000502379.1:p.Leu700del | |
| ENST00000676013.1:c.1986_1988del | ENSP00000501999.1:p.Leu663del | |
| ENST00000287647.7:c.2097_2099del | ENSP00000287647.3:p.Leu700del | |
| ENST00000383807.5:c.2097_2099del | ENSP00000373318.1:p.Leu700del | |
| ENST00000419585.5:c.2097_2099del | ENSP00000398754.1:p.Leu700del | |
| ENST00000421731.5:c.596_598del | ||
| ENST00000470757.5:n.151_153del | ||
| ENST00000480909.1:n.112_114del | ||
| NM_001018115.1:c.2097_2099del , LRG_306t1:c.2097_2099del | NP_001018125.1:p.Leu700del | |
| NM_033084.3:c.2097_2099del , LRG_306t2:c.2097_2099del | NP_149075.2:p.Leu700del | |
| XM_005264946.2:c.2097_2099del | XP_005265003.1:p.Leu700del | |
| XM_005264947.2:c.102_104del | XP_005265004.1:p.Leu35del | |
| XM_006713021.2:c.2097_2099del | XP_006713084.1:p.Leu700del | |
| XM_006713023.2:c.2097_2099del | XP_006713086.1:p.Leu700del | |
| XM_006713024.2:c.2097_2099del | XP_006713087.1:p.Leu700del | |
| XM_011533479.1:c.2097_2099del | XP_011531781.1:p.Leu700del | |
| XM_011533480.1:c.948_950del | XP_011531782.1:p.Leu317del | |
| XR_940391.1:n.2217_2219del | ||
| NM_001018115.2:c.2097_2099del | NP_001018125.1:p.Leu700del | |
| NM_001319984.1:c.2097_2099del | NP_001306913.1:p.Leu700del | |
| NM_033084.4:c.2097_2099del | NP_149075.2:p.Leu700del | |
| NM_001018115.3:c.2097_2099del MANE Select | NP_001018125.1:p.Leu700del | |
| NM_001319984.2:c.2097_2099del | NP_001306913.1:p.Leu700del | |
| NM_001374253.1:c.1986_1988del | NP_001361182.1:p.Leu663del | |
| NM_001374254.1:c.2097_2099del | NP_001361183.1:p.Leu700del | |
| NM_033084.6:c.2097_2099del | NP_149075.2:p.Leu700del |