Linked Data
ClinVar Variation Id:
1092203
ClinVar RCV Id:
RCV001411961
dbSNP Id:
rs753159224
ExAC:
17:78078932 G / GTGGGC
gnomAD v2:
17-78078932-G-GTGGGC
gnomAD v3:
17-80105133-G-GTGGGC
gnomAD v4:
17-80105133-G-GTGGGC
MyVariant Identifiers:
chr17:g.78078932_78078933insTGGGC (hg19)
chr17:g.80105133_80105134insTGGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80105134_80105138dup , CM000679.2:g.80105134_80105138dup | GRCh38 |
| NC_000017.10:g.78078933_78078937dup , CM000679.1:g.78078933_78078937dup | GRCh37 |
| NC_000017.9:g.75693528_75693532dup | NCBI36 |
| NG_009822.1:g.8579_8583dup , LRG_673:g.8579_8583dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.546+2_546+6dup | ENSP00000460543.2:n.546+2_546+6dup | |
| ENST00000572080.2:c.546+2_546+6dup | ENSP00000459972.2:n.546+2_546+6dup | |
| ENST00000577106.6:c.546+2_546+6dup | ENSP00000458306.2:n.546+2_546+6dup | |
| ENST00000302262.8:c.546+2_546+6dup MANE Select | ENSP00000305692.3:n.546+2_546+6dup | |
| ENST00000302262.7:c.546+2_546+6dup | ENSP00000305692.3:n.546+2_546+6dup | |
| ENST00000390015.7:c.546+2_546+6dup | ENSP00000374665.3:n.546+2_546+6dup | |
| ENST00000570803.5:c.546+2_546+6dup | ENSP00000460543.1:n.546+2_546+6dup | |
| ENST00000577106.5:c.546+2_546+6dup | ENSP00000458306.1:n.546+2_546+6dup | |
| NM_000152.3:c.546+2_546+6dup , LRG_673t1:c.546+2_546+6dup | NP_000143.2:n.546+2_546+6dup | |
| NM_001079803.1:c.546+2_546+6dup | NP_001073271.1:n.546+2_546+6dup | |
| NM_001079804.1:c.546+2_546+6dup | NP_001073272.1:n.546+2_546+6dup | |
| XM_005257193.1:c.546+2_546+6dup | XP_005257250.1:n.546+2_546+6dup | |
| XM_005257194.3:c.546+2_546+6dup | XP_005257251.1:n.546+2_546+6dup | |
| NM_000152.4:c.546+2_546+6dup | NP_000143.2:n.546+2_546+6dup | |
| NM_001079803.2:c.546+2_546+6dup | NP_001073271.1:n.546+2_546+6dup | |
| NM_001079804.2:c.546+2_546+6dup | NP_001073272.1:n.546+2_546+6dup | |
| XM_005257193.2:c.546+2_546+6dup | XP_005257250.1:n.546+2_546+6dup | |
| XM_005257194.4:c.546+2_546+6dup | XP_005257251.1:n.546+2_546+6dup | |
| NM_000152.5:c.546+2_546+6dup MANE Select | NP_000143.2:n.546+2_546+6dup | |
| NM_001079803.3:c.546+2_546+6dup | NP_001073271.1:n.546+2_546+6dup | |
| NM_001079804.3:c.546+2_546+6dup | NP_001073272.1:n.546+2_546+6dup |