Linked Data
ClinVar Variation Id:
41163
dbSNP Id:
rs267606537
gnomAD v2:
11-67254514-AGGGCACCGTGCTGGACGACAGCCG-A
gnomAD v4:
11-67487043-AGGGCACCGTGCTGGACGACAGCCG-A
PubMed:
PMID:22720333
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67487046_67487069del , CM000673.2:g.67487046_67487069del | GRCh38 |
| NC_000011.9:g.67254517_67254540del , CM000673.1:g.67254517_67254540del | GRCh37 |
| NC_000011.8:g.67011093_67011116del | NCBI36 |
| NG_008969.1:g.9013_9036del , LRG_460:g.9013_9036del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525341.2:c.117_140del | ||
| ENST00000528641.7:c.140_163del | ENSP00000434982.3:p.Gly47_Arg54del | |
| ENST00000529797.2:n.70_93del | ||
| ENST00000682324.1:c.140_163del | ENSP00000508017.1:p.Gly47_Arg54del | |
| ENST00000682659.1:c.100-2992_100-2969del | ENSP00000507351.1:n.100-2992_100-2969del | |
| ENST00000682699.1:c.140_163del | ENSP00000507935.1:p.Gly47_Arg54del | |
| ENST00000683237.1:c.140_163del | ENSP00000507343.1:p.Gly47_Arg54del | |
| ENST00000683856.1:c.-38_-15del | ENSP00000507979.1:n.-38_-15del | |
| ENST00000684006.1:c.140_163del | ENSP00000507269.1:p.Gly47_Arg54del | |
| ENST00000684657.1:c.100-2221_100-2198del | ENSP00000507961.1:n.100-2221_100-2198del | |
| ENST00000279146.8:c.140_163del MANE Select | ENSP00000279146.3:p.Gly47_Arg54del | |
| ENST00000279146.7:c.140_163del | ENSP00000279146.3:p.Gly47_Arg54del | |
| ENST00000528641.6:c.140_163del | ENSP00000434982.2:p.Gly47_Arg54del | |
| ENST00000529797.1:n.250_273del | ||
| NM_001302959.1:c.-38_-15del | NP_001289888.1:n.-38_-15del | |
| NM_001302960.1:c.140_163del | NP_001289889.1:p.Gly47_Arg54del | |
| NM_003977.3:c.140_163del | NP_003968.3:p.Gly47_Arg54del | |
| XM_024448761.1:c.140_163del | XP_024304529.1:p.Gly47_Arg54del | |
| NM_003977.4:c.140_163del MANE Select | NP_003968.3:p.Gly47_Arg54del | |
| NM_001302960.2:c.140_163del | NP_001289889.1:p.Gly47_Arg54del | |
| NM_001302959.2:c.-38_-15del | NP_001289888.1:n.-38_-15del |