Linked Data
ClinVar Variation Id:
1049876
ClinVar RCV Id:
RCV001356521
dbSNP Id:
rs550353351
gnomAD v2:
19-13054649-T-TGAGGATGAG
gnomAD v3:
19-12943835-T-TGAGGATGAG
gnomAD v4:
19-12943835-T-TGAGGATGAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12943850_12943858dup , CM000681.2:g.12943850_12943858dup | GRCh38 |
| NC_000019.9:g.13054664_13054672dup , CM000681.1:g.13054664_13054672dup | GRCh37 |
| NC_000019.8:g.12915664_12915672dup | NCBI36 |
| NG_029662.1:g.10251_10259dup , LRG_828:g.10251_10259dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316448.10:c.1191_1199dup MANE Select | ENSP00000320866.4:p.Asp400_Lys401insGluGluAsp | |
| ENST00000586760.2:c.1098-92_1098-84dup | ENSP00000465918.2:n.1098-92_1098-84dup | |
| ENST00000586967.2:c.1191_1199dup | ENSP00000466037.2:p.Asp400_Lys401insGluGluAsp | |
| ENST00000588454.6:c.987_995dup | ENSP00000465105.2:p.Asp332_Lys333insGluGluAsp | |
| ENST00000680816.1:c.*208_*216dup | ENSP00000504963.1:n.*208_*216dup | |
| ENST00000316448.9:c.1191_1199dup | ENSP00000320866.4:p.Asp400_Lys401insGluGluAsp | |
| ENST00000586760.1:c.452-92_452-84dup | ||
| ENST00000586803.1:n.555_563dup | ||
| NM_004343.3:c.1191_1199dup , LRG_828t1:c.1191_1199dup | NP_004334.1:p.Asp400_Lys401insGluGluAsp | |
| NM_004343.4:c.1191_1199dup MANE Select | NP_004334.1:p.Asp400_Lys401insGluGluAsp |