Linked Data
dbSNP Id:
rs1331529295
MyVariant Identifiers:
chr7:g.150647102_150647103insGTT (hg19)
chr7:g.150950014_150950015insGTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150950014_150950015insGTT , CM000669.2:g.150950014_150950015insGTT | GRCh38 |
| NC_000007.13:g.150647102_150647103insGTT , CM000669.1:g.150647102_150647103insGTT | GRCh37 |
| NC_000007.12:g.150278035_150278036insGTT | NCBI36 |
| NG_008916.1:g.32912_32913insAAC , LRG_288:g.32912_32913insAAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1849_1850insAAC | ||
| ENST00000684241.1:n.3231+153_3231+154insAAC | ||
| ENST00000262186.10:c.2398+153_2398+154insAAC MANE Select | ENSP00000262186.5:n.2398+153_2398+154insAAC | |
| ENST00000330883.9:c.1378+153_1378+154insAAC | ENSP00000328531.4:n.1378+153_1378+154insAAC | |
| ENST00000262186.9:c.2398+153_2398+154insAAC | ENSP00000262186.5:n.2398+153_2398+154insAAC | |
| ENST00000330883.8:c.1378+153_1378+154insAAC | ENSP00000328531.4:n.1378+153_1378+154insAAC | |
| ENST00000430723.4:c.2203_2204insAAC | ENSP00000387657.4:p.Ser735delinsLysArg | |
| ENST00000461280.1:n.1838_1839insAAC | ||
| ENST00000473610.5:n.2183_2184insAAC | ||
| ENST00000532957.5:n.2774_2775insAAC | ||
| NM_000238.3:c.2398+153_2398+154insAAC , LRG_288t1:c.2398+153_2398+154insAAC | NP_000229.1:n.2398+153_2398+154insAAC | |
| NM_001204798.1:c.1531_1532insAAC | NP_001191727.1:p.Ser511delinsLysArg | |
| NM_172056.2:c.2551_2552insAAC , LRG_288t2:c.2551_2552insAAC | NP_742053.1:p.Ser851delinsLysArg | |
| NM_172057.2:c.1378+153_1378+154insAAC , LRG_288t3:c.1378+153_1378+154insAAC | NP_742054.1:n.1378+153_1378+154insAAC | |
| XM_011516185.1:c.2098+153_2098+154insAAC | XP_011514487.1:n.2098+153_2098+154insAAC | |
| XM_011516186.1:c.2398+153_2398+154insAAC | XP_011514488.1:n.2398+153_2398+154insAAC | |
| XM_011516185.2:c.2098+153_2098+154insAAC | XP_011514487.1:n.2098+153_2098+154insAAC | |
| XM_011516186.3:c.2398+153_2398+154insAAC | XP_011514488.1:n.2398+153_2398+154insAAC | |
| XM_017012195.1:c.2248+153_2248+154insAAC | XP_016867684.1:n.2248+153_2248+154insAAC | |
| XM_017012196.1:c.2221+153_2221+154insAAC | XP_016867685.1:n.2221+153_2221+154insAAC | |
| NM_000238.4:c.2398+153_2398+154insAAC MANE Select | NP_000229.1:n.2398+153_2398+154insAAC | |
| NM_001204798.2:c.1531_1532insAAC | NP_001191727.1:p.Ser511delinsLysArg | |
| NM_172057.3:c.1378+153_1378+154insAAC | NP_742054.1:n.1378+153_1378+154insAAC |