Linked Data
dbSNP Id:
rs758504143
gnomAD v2:
1-245027083-T-TGCTGTTGGG
MyVariant Identifiers:
chr1:g.245027083_245027084insGCTGTTGGG (hg19)
chr1:g.244863781_244863782insGCTGTTGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244863789_244863797dup , CM000663.2:g.244863789_244863797dup | GRCh38 |
| NC_000001.10:g.245027091_245027099dup , CM000663.1:g.245027091_245027099dup | GRCh37 |
| NC_000001.9:g.243093714_243093722dup | NCBI36 |
| NG_042184.1:g.5736_5744dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704074.1:c.196_204dup | ||
| ENST00000283179.14:c.518_526dup | ENSP00000283179.10:p.Gln175_Gln176insProGlnGln | |
| ENST00000444376.7:c.518_526dup | ENSP00000393151.2:p.Gln175_Gln176insProGlnGln | |
| ENST00000476241.2:n.703_711dup | ||
| ENST00000638475.1:c.302_310dup | ENSP00000491305.1:p.Gln103_Gln104insProGlnGln | |
| ENST00000638952.1:n.749_757dup | ||
| ENST00000640218.2:c.518_526dup MANE Select | ENSP00000491215.1:p.Gln175_Gln176insProGlnGln | |
| ENST00000640306.1:c.518_526dup | ENSP00000491685.1:p.Gln175_Gln176insProGlnGln | |
| ENST00000640440.1:c.218_226dup | ENSP00000491263.1:p.Gln75_Gln76insProGlnGln | |
| ENST00000649899.1:n.742_750dup | ||
| ENST00000283179.13:c.518_526dup | ENSP00000283179.9:p.Gln175_Gln176insProGlnGln | |
| ENST00000444376.6:c.518_526dup | ENSP00000393151.2:p.Gln175_Gln176insProGlnGln | |
| ENST00000476241.1:n.702_710dup | ||
| NM_004501.3:c.518_526dup | NP_004492.2:p.Gln175_Gln176insProGlnGln | |
| NM_031844.2:c.518_526dup | NP_114032.2:p.Gln175_Gln176insProGlnGln | |
| NM_031844.3:c.518_526dup MANE Select | NP_114032.2:p.Gln175_Gln176insProGlnGln |