Linked Data
ClinVar Variation Id:
1696863
ClinVar RCV Id:
RCV002267209
dbSNP Id:
rs1599634685
gnomAD v4:
19-38565186-C-CACGGCGGCCACG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38565187_38565198dup , CM000681.2:g.38565187_38565198dup | GRCh38 |
| NC_000019.9:g.39055827_39055838dup , CM000681.1:g.39055827_39055838dup | GRCh37 |
| NC_000019.8:g.43747667_43747678dup | NCBI36 |
| NG_008866.1:g.136488_136499dup , LRG_766:g.136488_136499dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688602.1:c.1263_1274dup | ||
| ENST00000689936.1:c.1245_1256dup | ||
| ENST00000359596.8:c.12853_12864dup MANE Select | ENSP00000352608.2:p.Thr4288_Ala4289insThrAlaAlaThr | |
| ENST00000355481.8:c.12838_12849dup | ENSP00000347667.3:p.Thr4283_Ala4284insThrAlaAlaThr | |
| ENST00000359596.7:c.12853_12864dup | ENSP00000352608.2:p.Thr4288_Ala4289insThrAlaAlaThr | |
| ENST00000360985.7:c.12835_12846dup | ENSP00000354254.4:p.Thr4282_Ala4283insThrAlaAlaThr | |
| ENST00000594335.5:c.6222_6233dup | ||
| NM_000540.2:c.12853_12864dup , LRG_766t1:c.12853_12864dup | NP_000531.2:p.Thr4288_Ala4289insThrAlaAlaThr | |
| NM_001042723.1:c.12838_12849dup | NP_001036188.1:p.Thr4283_Ala4284insThrAlaAlaThr | |
| XM_006723317.1:c.12835_12846dup | XP_006723380.1:p.Thr4282_Ala4283insThrAlaAlaThr | |
| XM_006723319.1:c.12820_12831dup | XP_006723382.1:p.Thr4277_Ala4278insThrAlaAlaThr | |
| XM_011527204.1:c.12850_12861dup | XP_011525506.1:p.Thr4287_Ala4288insThrAlaAlaThr | |
| XM_011527205.1:c.12853_12864dup | XP_011525507.1:p.Thr4288_Ala4289insThrAlaAlaThr | |
| XM_006723317.2:c.12835_12846dup | XP_006723380.1:p.Thr4282_Ala4283insThrAlaAlaThr | |
| XM_006723319.2:c.12820_12831dup | XP_006723382.1:p.Thr4277_Ala4278insThrAlaAlaThr | |
| XM_011527205.2:c.12853_12864dup | XP_011525507.1:p.Thr4288_Ala4289insThrAlaAlaThr | |
| NM_000540.3:c.12853_12864dup MANE Select | NP_000531.2:p.Thr4288_Ala4289insThrAlaAlaThr | |
| NM_001042723.2:c.12838_12849dup | NP_001036188.1:p.Thr4283_Ala4284insThrAlaAlaThr |