Linked Data
dbSNP Id:
rs80356379
MyVariant Identifiers:
chr10:g.102510469_102510470insCGGCAG (hg19)
chr10:g.100750712_100750713insCGGCAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100750712_100750713insCGGCAG , CM000672.2:g.100750712_100750713insCGGCAG | GRCh38 |
| NC_000010.10:g.102510469_102510470insCGGCAG , CM000672.1:g.102510469_102510470insCGGCAG | GRCh37 |
| NC_000010.9:g.102500459_102500460insCGGCAG | NCBI36 |
| NG_008680.1:g.10002_10003insCGGCAG | |
| NG_008680.2:g.20004_20005insCGGCAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707078.1:c.324_325insCGGCAG | ENSP00000516729.1:p.Ser108_Ile109insArgGl... | |
| ENST00000707079.1:c.231_232insCGGCAG | ENSP00000516730.1:p.Ser77_Ile78insArgGln | |
| ENST00000355243.8:c.231_232insCGGCAG MANE Select | ENSP00000347385.3:p.Ser77_Ile78insArgGln | |
| ENST00000427256.6:c.231_232insCGGCAG | ENSP00000398652.2:p.Ser77_Ile78insArgGln | |
| ENST00000679374.1:c.213_214insCGGCAG | ENSP00000506041.1:p.Ser71_Ile72insArgGln | |
| ENST00000355243.7:c.231_232insCGGCAG | ENSP00000347385.2:p.Ser77_Ile78insArgGln | |
| ENST00000361791.7:c.228_229insCGGCAG | ENSP00000355069.4:p.Ser76_Ile77insArgGln | |
| ENST00000370296.6:c.231_232insCGGCAG | ENSP00000359319.3:p.Ser77_Ile78insArgGln | |
| ENST00000427256.5:c.231_232insCGGCAG | ENSP00000398652.1:p.Ser77_Ile78insArgGln | |
| ENST00000428433.5:c.231_232insCGGCAG | ENSP00000396259.1:p.Ser77_Ile78insArgGln | |
| ENST00000553492.5:n.131+14979_131+14980insCGGCAG | ||
| ENST00000554172.2:c.243_244insCGGCAG | ENSP00000452489.2:p.Ser81_Ile82insArgGln | |
| ENST00000554363.2:n.125+4409_125+4410insCGGCAG | ||
| NM_000278.3:c.231_232insCGGCAG | NP_000269.2:p.Ser77_Ile78insArgGln | |
| NM_001304569.1:c.324_325insCGGCAG | NP_001291498.1:p.Ser108_Ile109insArgGln | |
| NM_003987.3:c.231_232insCGGCAG | NP_003978.2:p.Ser77_Ile78insArgGln | |
| NM_003988.3:c.231_232insCGGCAG | NP_003979.2:p.Ser77_Ile78insArgGln | |
| NM_003989.3:c.231_232insCGGCAG | NP_003980.2:p.Ser77_Ile78insArgGln | |
| NM_003990.3:c.231_232insCGGCAG | NP_003981.2:p.Ser77_Ile78insArgGln | |
| NM_000278.4:c.231_232insCGGCAG | NP_000269.3:p.Ser77_Ile78insArgGln | |
| NM_003987.4:c.231_232insCGGCAG | NP_003978.3:p.Ser77_Ile78insArgGln | |
| NM_003988.4:c.231_232insCGGCAG | NP_003979.2:p.Ser77_Ile78insArgGln | |
| NM_003989.4:c.231_232insCGGCAG | NP_003980.3:p.Ser77_Ile78insArgGln | |
| NM_003990.4:c.231_232insCGGCAG | NP_003981.3:p.Ser77_Ile78insArgGln | |
| NM_000278.5:c.231_232insCGGCAG MANE Select | NP_000269.3:p.Ser77_Ile78insArgGln | |
| NM_001304569.2:c.324_325insCGGCAG | NP_001291498.1:p.Ser108_Ile109insArgGln | |
| NM_003987.5:c.231_232insCGGCAG | NP_003978.3:p.Ser77_Ile78insArgGln | |
| NM_003988.5:c.231_232insCGGCAG | NP_003979.2:p.Ser77_Ile78insArgGln | |
| NM_003989.5:c.231_232insCGGCAG | NP_003980.3:p.Ser77_Ile78insArgGln | |
| NM_003990.5:c.231_232insCGGCAG | NP_003981.3:p.Ser77_Ile78insArgGln |