Linked Data
dbSNP Id:
rs768465864
gnomAD v2:
17-78082479-C-CCCAGCAGA
gnomAD v4:
17-80108680-C-CCCAGCAGA
MyVariant Identifiers:
chr17:g.78082479_78082480insCCAGCAGA (hg19)
chr17:g.80108680_80108681insCCAGCAGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80108681_80108682insCAGCAGAC , CM000679.2:g.80108681_80108682insCAGCAGAC | GRCh38 |
| NC_000017.10:g.78082480_78082481insCAGCAGAC , CM000679.1:g.78082480_78082481insCAGCAGAC | GRCh37 |
| NC_000017.9:g.75697075_75697076insCAGCAGAC | NCBI36 |
| NG_009822.1:g.12126_12127insCAGCAGAC , LRG_673:g.12126_12127insCAGCAGAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.1195-16_1195-15insCAGCAGAC | ENSP00000460543.2:n.1195-16_1195-15insCAGCAGAC | |
| ENST00000572080.2:c.1195-16_1195-15insCAGCAGAC | ENSP00000459972.2:n.1195-16_1195-15insCAGCAGAC | |
| ENST00000577106.6:c.1195-16_1195-15insCAGCAGAC | ENSP00000458306.2:n.1195-16_1195-15insCAGCAGAC | |
| ENST00000302262.8:c.1195-16_1195-15insCAGCAGAC MANE Select | ENSP00000305692.3:n.1195-16_1195-15insCAGCAGAC | |
| ENST00000302262.7:c.1195-16_1195-15insCAGCAGAC | ENSP00000305692.3:n.1195-16_1195-15insCAGCAGAC | |
| ENST00000390015.7:c.1195-16_1195-15insCAGCAGAC | ENSP00000374665.3:n.1195-16_1195-15insCAGCAGAC | |
| NM_000152.3:c.1195-16_1195-15insCAGCAGAC , LRG_673t1:c.1195-16_1195-15insCAGCAGAC | NP_000143.2:n.1195-16_1195-15insCAGCAGAC | |
| NM_001079803.1:c.1195-16_1195-15insCAGCAGAC | NP_001073271.1:n.1195-16_1195-15insCAGCAGAC | |
| NM_001079804.1:c.1195-16_1195-15insCAGCAGAC | NP_001073272.1:n.1195-16_1195-15insCAGCAGAC | |
| XM_005257193.1:c.1195-16_1195-15insCAGCAGAC | XP_005257250.1:n.1195-16_1195-15insCAGCAGAC | |
| XM_005257194.3:c.1195-16_1195-15insCAGCAGAC | XP_005257251.1:n.1195-16_1195-15insCAGCAGAC | |
| NM_000152.4:c.1195-16_1195-15insCAGCAGAC | NP_000143.2:n.1195-16_1195-15insCAGCAGAC | |
| NM_001079803.2:c.1195-16_1195-15insCAGCAGAC | NP_001073271.1:n.1195-16_1195-15insCAGCAGAC | |
| NM_001079804.2:c.1195-16_1195-15insCAGCAGAC | NP_001073272.1:n.1195-16_1195-15insCAGCAGAC | |
| XM_005257193.2:c.1195-16_1195-15insCAGCAGAC | XP_005257250.1:n.1195-16_1195-15insCAGCAGAC | |
| XM_005257194.4:c.1195-16_1195-15insCAGCAGAC | XP_005257251.1:n.1195-16_1195-15insCAGCAGAC | |
| NM_000152.5:c.1195-16_1195-15insCAGCAGAC MANE Select | NP_000143.2:n.1195-16_1195-15insCAGCAGAC | |
| NM_001079803.3:c.1195-16_1195-15insCAGCAGAC | NP_001073271.1:n.1195-16_1195-15insCAGCAGAC | |
| NM_001079804.3:c.1195-16_1195-15insCAGCAGAC | NP_001073272.1:n.1195-16_1195-15insCAGCAGAC |