Linked Data
dbSNP Id:
rs1472566335
gnomAD v3:
17-80104813-G-GAGC
gnomAD v4:
17-80104813-G-GAGC
MyVariant Identifiers:
chr17:g.78078612_78078613insAGC (hg19)
chr17:g.80104813_80104814insAGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80104816_80104818dup , CM000679.2:g.80104816_80104818dup | GRCh38 |
| NC_000017.10:g.78078615_78078617dup , CM000679.1:g.78078615_78078617dup | GRCh37 |
| NC_000017.9:g.75693210_75693212dup | NCBI36 |
| NG_009822.1:g.8261_8263dup , LRG_673:g.8261_8263dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.230_232dup | ENSP00000460543.2:p.Ala77_Val78insAla | |
| ENST00000572080.2:c.230_232dup | ENSP00000459972.2:p.Ala77_Val78insAla | |
| ENST00000577106.6:c.230_232dup | ENSP00000458306.2:p.Ala77_Val78insAla | |
| ENST00000302262.8:c.230_232dup MANE Select | ENSP00000305692.3:p.Ala77_Val78insAla | |
| ENST00000302262.7:c.230_232dup | ENSP00000305692.3:p.Ala77_Val78insAla | |
| ENST00000390015.7:c.230_232dup | ENSP00000374665.3:p.Ala77_Val78insAla | |
| ENST00000570803.5:c.230_232dup | ENSP00000460543.1:p.Ala77_Val78insAla | |
| ENST00000577106.5:c.230_232dup | ENSP00000458306.1:p.Ala77_Val78insAla | |
| NM_000152.3:c.230_232dup , LRG_673t1:c.230_232dup | NP_000143.2:p.Ala77_Val78insAla | |
| NM_001079803.1:c.230_232dup | NP_001073271.1:p.Ala77_Val78insAla | |
| NM_001079804.1:c.230_232dup | NP_001073272.1:p.Ala77_Val78insAla | |
| XM_005257193.1:c.230_232dup | XP_005257250.1:p.Ala77_Val78insAla | |
| XM_005257194.3:c.230_232dup | XP_005257251.1:p.Ala77_Val78insAla | |
| NM_000152.4:c.230_232dup | NP_000143.2:p.Ala77_Val78insAla | |
| NM_001079803.2:c.230_232dup | NP_001073271.1:p.Ala77_Val78insAla | |
| NM_001079804.2:c.230_232dup | NP_001073272.1:p.Ala77_Val78insAla | |
| XM_005257193.2:c.230_232dup | XP_005257250.1:p.Ala77_Val78insAla | |
| XM_005257194.4:c.230_232dup | XP_005257251.1:p.Ala77_Val78insAla | |
| NM_000152.5:c.230_232dup MANE Select | NP_000143.2:p.Ala77_Val78insAla | |
| NM_001079803.3:c.230_232dup | NP_001073271.1:p.Ala77_Val78insAla | |
| NM_001079804.3:c.230_232dup | NP_001073272.1:p.Ala77_Val78insAla |