Linked Data
ClinVar Variation Id:
369944
ClinVar RCV Id:
RCV000408809
dbSNP Id:
rs1057516189
MyVariant Identifiers:
chr17:g.78092509_78092521dupCAGAAGGTGACTG (hg19)
chr17:g.80118710_80118722dupCAGAAGGTGACTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80118710_80118722dup , CM000679.2:g.80118710_80118722dup | GRCh38 |
| NC_000017.10:g.78092509_78092521dup , CM000679.1:g.78092509_78092521dup | GRCh37 |
| NC_000017.9:g.75707104_75707116dup | NCBI36 |
| NG_009822.1:g.22155_22167dup , LRG_673:g.22155_22167dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000570803.6:c.2704_2716dup | ENSP00000460543.2:p.Val906AlafsTer? | |
| ENST00000572080.2:c.*842_*854dup | ENSP00000459972.2:n.*842_*854dup | |
| ENST00000577106.6:c.2704_2716dup | ENSP00000458306.2:p.Val906AlafsTer? | |
| ENST00000302262.8:c.2704_2716dup MANE Select | ENSP00000305692.3:p.Val906AlafsTer? | |
| ENST00000302262.7:c.2704_2716dup | ENSP00000305692.3:p.Val906AlafsTer? | |
| ENST00000390015.7:c.2704_2716dup | ENSP00000374665.3:p.Val906AlafsTer? | |
| ENST00000573556.1:n.657_669dup | ||
| NM_000152.3:c.2704_2716dup , LRG_673t1:c.2704_2716dup | NP_000143.2:p.Val906AlafsTer? | |
| NM_001079803.1:c.2704_2716dup | NP_001073271.1:p.Val906AlafsTer? | |
| NM_001079804.1:c.2704_2716dup | NP_001073272.1:p.Val906AlafsTer? | |
| XM_005257193.1:c.2704_2716dup | XP_005257250.1:p.Val906AlafsTer? | |
| XM_005257194.3:c.2704_2716dup | XP_005257251.1:p.Val906AlafsTer? | |
| NM_000152.4:c.2704_2716dup | NP_000143.2:p.Val906AlafsTer? | |
| NM_001079803.2:c.2704_2716dup | NP_001073271.1:p.Val906AlafsTer? | |
| NM_001079804.2:c.2704_2716dup | NP_001073272.1:p.Val906AlafsTer? | |
| XM_005257193.2:c.2704_2716dup | XP_005257250.1:p.Val906AlafsTer? | |
| XM_005257194.4:c.2704_2716dup | XP_005257251.1:p.Val906AlafsTer? | |
| NM_000152.5:c.2704_2716dup MANE Select | NP_000143.2:p.Val906AlafsTer? | |
| NM_001079803.3:c.2704_2716dup | NP_001073271.1:p.Val906AlafsTer? | |
| NM_001079804.3:c.2704_2716dup | NP_001073272.1:p.Val906AlafsTer? |