Linked Data
dbSNP Id:
rs2071382915
gnomAD v3:
3-121993365-G-GTCTCCCGTGCCTCTGAGTGC
gnomAD v4:
3-121993365-G-GTCTCCCGTGCCTCTGAGTGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121993373_121993392dup , CM000665.2:g.121993373_121993392dup | GRCh38 |
| NC_000003.11:g.121712220_121712239dup , CM000665.1:g.121712220_121712239dup | GRCh37 |
| NC_000003.10:g.123194910_123194929dup | NCBI36 |
| NG_031870.1:g.33896_33915dup | |
| NG_031870.2:g.72170_72189dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344209.10:c.1364_1383dup MANE Select | ENSP00000345667.5:p.Arg462AlafsTer? | |
| ENST00000460554.2:n.1314_1333dup | ||
| ENST00000642615.1:c.*547_*566dup | ENSP00000495499.1:n.*547_*566dup | |
| ENST00000273691.7:c.1232_1251dup | ENSP00000273691.3:p.Arg418AlafsTer? | |
| ENST00000344209.9:c.1364_1383dup | ENSP00000345667.5:p.Arg462AlafsTer? | |
| ENST00000393631.5:c.1097_1116dup | ENSP00000377251.1:p.Arg373AlafsTer? | |
| ENST00000460554.1:n.1466_1485dup | ||
| ENST00000462014.1:c.1268_1287dup | ENSP00000419414.1:p.Arg430AlafsTer? | |
| NM_001199799.1:c.1364_1383dup | NP_001186728.1:p.Arg462AlafsTer? | |
| NM_001199800.1:c.1097_1116dup | NP_001186729.1:p.Arg373AlafsTer? | |
| NM_175924.3:c.1232_1251dup | NP_787120.1:p.Arg418AlafsTer? | |
| XM_005247389.3:c.1268_1287dup | XP_005247446.1:p.Arg430AlafsTer? | |
| XM_011512738.1:c.1364_1383dup | XP_011511040.1:p.Arg462AlafsTer? | |
| XM_011512739.1:c.827_846dup | XP_011511041.1:p.Arg283AlafsTer? | |
| XM_005247389.4:c.1268_1287dup | XP_005247446.1:p.Arg430AlafsTer? | |
| XM_011512738.2:c.1364_1383dup | XP_011511040.1:p.Arg462AlafsTer? | |
| XM_011512739.2:c.827_846dup | XP_011511041.1:p.Arg283AlafsTer? | |
| NM_001199799.2:c.1364_1383dup MANE Select | NP_001186728.1:p.Arg462AlafsTer? | |
| NM_001199800.2:c.1097_1116dup | NP_001186729.1:p.Arg373AlafsTer? | |
| NM_175924.4:c.1232_1251dup | NP_787120.1:p.Arg418AlafsTer? |