Linked Data
dbSNP Id:
rs1365865262
gnomAD v4:
5-180603329-G-GCCT
MyVariant Identifiers:
chr5:g.180030329_180030330insCCT (hg19)
chr5:g.180603329_180603330insCCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.180603332_180603334dup , CM000667.2:g.180603332_180603334dup | GRCh38 |
| NC_000005.9:g.180030332_180030334dup , CM000667.1:g.180030332_180030334dup | GRCh37 |
| NC_000005.8:g.179962938_179962940dup | NCBI36 |
| NG_011536.1:g.51293_51295dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261937.11:c.3952_3954dup MANE Select | ENSP00000261937.6:p.Arg1318_Arg1319insArg | |
| ENST00000261937.10:c.3952_3954dup | ENSP00000261937.6:p.Arg1318_Arg1319insArg | |
| ENST00000502603.5:n.652_654dup | ||
| NM_182925.4:c.3952_3954dup | NP_891555.2:p.Arg1318_Arg1319insArg | |
| XM_011534477.1:c.4201_4203dup | XP_011532779.1:p.Arg1401_Arg1402insArg | |
| XM_011534478.1:c.4183_4185dup | XP_011532780.1:p.Arg1395_Arg1396insArg | |
| XM_011534479.1:c.*98_*100dup | XP_011532781.1:n.*98_*100dup | |
| XM_011534482.1:c.3970_3972dup | XP_011532784.1:p.Arg1324_Arg1325insArg | |
| XM_011534483.1:c.3892_3894dup | XP_011532785.1:p.Arg1298_Arg1299insArg | |
| XM_011534484.1:c.3493_3495dup | XP_011532786.1:p.Arg1165_Arg1166insArg | |
| XR_941095.1:n.4238_4240dup | ||
| XM_011534478.3:c.4183_4185dup | XP_011532780.1:p.Arg1395_Arg1396insArg | |
| XM_011534484.2:c.3493_3495dup | XP_011532786.1:p.Arg1165_Arg1166insArg | |
| XM_017009263.1:c.*98_*100dup | XP_016864752.1:n.*98_*100dup | |
| XM_017009268.1:c.3874_3876dup | XP_016864757.1:p.Arg1292_Arg1293insArg | |
| XR_001742050.2:n.4442_4444dup | ||
| NM_182925.5:c.3952_3954dup MANE Select | NP_891555.2:p.Arg1318_Arg1319insArg |