Linked Data
dbSNP Id:
rs1364398131
gnomAD v4:
1-244863789-G-GGGCTGTTGC
MyVariant Identifiers:
chr1:g.245027091_245027092insGGCTGTTGC (hg19)
chr1:g.244863789_244863790insGGCTGTTGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244863790_244863798dup , CM000663.2:g.244863790_244863798dup | GRCh38 |
| NC_000001.10:g.245027092_245027100dup , CM000663.1:g.245027092_245027100dup | GRCh37 |
| NC_000001.9:g.243093715_243093723dup | NCBI36 |
| NG_042184.1:g.5728_5736dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704074.1:c.188_196dup | ||
| ENST00000283179.14:c.510_518dup | ENSP00000283179.10:p.Pro173_Gln174insGlnGlnPro | |
| ENST00000444376.7:c.510_518dup | ENSP00000393151.2:p.Pro173_Gln174insGlnGlnPro | |
| ENST00000476241.2:n.695_703dup | ||
| ENST00000638475.1:c.294_302dup | ENSP00000491305.1:p.Pro101_Gln102insGlnGlnPro | |
| ENST00000638952.1:n.741_749dup | ||
| ENST00000640218.2:c.510_518dup MANE Select | ENSP00000491215.1:p.Pro173_Gln174insGlnGlnPro | |
| ENST00000640306.1:c.510_518dup | ENSP00000491685.1:p.Pro173_Gln174insGlnGlnPro | |
| ENST00000640440.1:c.210_218dup | ENSP00000491263.1:p.Pro73_Gln74insGlnGlnPro | |
| ENST00000649899.1:n.734_742dup | ||
| ENST00000283179.13:c.510_518dup | ENSP00000283179.9:p.Pro173_Gln174insGlnGlnPro | |
| ENST00000444376.6:c.510_518dup | ENSP00000393151.2:p.Pro173_Gln174insGlnGlnPro | |
| ENST00000476241.1:n.694_702dup | ||
| NM_004501.3:c.510_518dup | NP_004492.2:p.Pro173_Gln174insGlnGlnPro | |
| NM_031844.2:c.510_518dup | NP_114032.2:p.Pro173_Gln174insGlnGlnPro | |
| NM_031844.3:c.510_518dup MANE Select | NP_114032.2:p.Pro173_Gln174insGlnGlnPro |