Linked Data
ClinVar Variation Id:
201940
dbSNP Id:
rs794729091
ExAC:
1:78401671 CAAG / C
gnomAD v2:
1-78401671-CAAG-C
gnomAD v3:
1-77935986-CAAG-C
gnomAD v4:
1-77935986-CAAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77935990_77935992del , CM000663.2:g.77935990_77935992del | GRCh38 |
| NC_000001.10:g.78401675_78401677del , CM000663.1:g.78401675_78401677del | GRCh37 |
| NC_000001.9:g.78174263_78174265del | NCBI36 |
| NG_016625.1:g.52476_52478del , LRG_442:g.52476_52478del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334785.12:c.1419_1421del MANE Select | ENSP00000333938.7:p.Arg474del | |
| ENST00000330010.12:c.1227_1229del | ENSP00000327363.8:p.Arg410del | |
| ENST00000334785.11:c.1419_1421del | ENSP00000333938.7:p.Arg474del | |
| ENST00000342754.5:c.1118_1120del | ||
| ENST00000480732.2:n.993_995del | ||
| NM_001172309.1:c.1227_1229del | NP_001165780.1:p.Arg410del | |
| NM_144573.3:c.1419_1421del , LRG_442t1:c.1419_1421del | NP_653174.3:p.Arg474del | |
| XM_005271322.2:c.1419_1421del | XP_005271379.1:p.Arg474del | |
| XM_005271323.2:c.1377_1379del | XP_005271380.1:p.Arg460del | |
| XM_005271324.3:c.1227_1229del | XP_005271381.1:p.Arg410del | |
| XM_005271325.2:c.1251+2511_1251+2513del | XP_005271382.1:n.1251+2511_1251+2513del | |
| XM_005271326.2:c.1185_1187del | XP_005271383.1:p.Arg396del | |
| XM_005271327.2:c.1002_1004del | XP_005271384.1:p.Arg335del | |
| XM_005271322.4:c.1419_1421del | XP_005271379.1:p.Arg474del | |
| XM_005271323.4:c.1377_1379del | XP_005271380.1:p.Arg460del | |
| XM_005271324.5:c.1227_1229del | XP_005271381.1:p.Arg410del | |
| XM_005271325.4:c.1251+2511_1251+2513del | XP_005271382.1:n.1251+2511_1251+2513del | |
| XM_005271326.4:c.1185_1187del | XP_005271383.1:p.Arg396del | |
| XM_005271327.4:c.1002_1004del | XP_005271384.1:p.Arg335del | |
| NM_001172309.2:c.1227_1229del | NP_001165780.1:p.Arg410del | |
| NM_144573.4:c.1419_1421del MANE Select | NP_653174.3:p.Arg474del |