Linked Data
ClinVar Variation Id:
522487
ClinVar RCV Id:
RCV000625629
dbSNP Id:
rs1553526162
gnomAD v3:
2-216432766-C-CCTGGGG
gnomAD v4:
2-216432766-C-CCTGGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216432767_216432772dup , CM000664.2:g.216432767_216432772dup | GRCh38 |
| NC_000002.11:g.217297490_217297495dup , CM000664.1:g.217297490_217297495dup | GRCh37 |
| NC_000002.10:g.217005735_217005740dup | NCBI36 |
| NG_009771.1:g.25354_25359dup , LRG_108:g.25354_25359dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000425815.6:c.1384_1389dup | ENSP00000394410.2:p.Gly463_Lys464insLeuGl... | |
| ENST00000430374.6:c.1384_1389dup | ENSP00000405077.2:p.Gly463_Lys464insLeuGl... | |
| ENST00000444508.6:c.1384_1389dup | ENSP00000398969.2:p.Gly463_Lys464insLeuGl... | |
| ENST00000697898.1:n.1745_1750dup | ||
| ENST00000697899.1:c.1150_1155dup | ENSP00000513470.1:p.Gly385_Lys386insLeuGl... | |
| ENST00000697900.1:n.1611-2571_1611-2566dup | ||
| ENST00000697901.1:c.*242_*247dup | ENSP00000513471.1:n.*242_*247dup | |
| ENST00000697902.1:n.1616_1621dup | ||
| ENST00000697903.1:c.1335-2571_1335-2566dup | ENSP00000513472.1:n.1335-2571_1335-2566du... | |
| ENST00000697904.1:c.1335-2571_1335-2566dup | ENSP00000513473.1:n.1335-2571_1335-2566du... | |
| ENST00000697905.1:c.1335-2571_1335-2566dup | ENSP00000513474.1:n.1335-2571_1335-2566du... | |
| ENST00000697906.1:c.1150_1155dup | ENSP00000513475.1:p.Gly385_Lys386insLeuGl... | |
| ENST00000697907.1:c.*242_*247dup | ENSP00000513476.1:n.*242_*247dup | |
| ENST00000697908.1:n.1181_1186dup | ||
| ENST00000357276.9:c.1384_1389dup MANE Select | ENSP00000349823.4:p.Gly463_Lys464insLeuGl... | |
| ENST00000357276.8:c.1384_1389dup | ENSP00000349823.4:p.Gly463_Lys464insLeuGl... | |
| ENST00000358207.9:c.1384_1389dup | ENSP00000350940.5:p.Gly463_Lys464insLeuGl... | |
| ENST00000392128.6:c.976_981dup | ENSP00000375974.2:p.Gly327_Lys328insLeuGl... | |
| ENST00000445153.1:c.57_62dup | ||
| NM_001127207.1:c.1384_1389dup | NP_001120679.1:p.Gly463_Lys464insLeuGly | |
| NM_014140.3:c.1384_1389dup , LRG_108t1:c.1384_1389dup | NP_054859.2:p.Gly463_Lys464insLeuGly | |
| XM_005246631.2:c.1384_1389dup | XP_005246688.1:p.Gly463_Lys464insLeuGly | |
| XM_005246632.1:c.1384_1389dup | XP_005246689.1:p.Gly463_Lys464insLeuGly | |
| XM_006712557.1:c.1384_1389dup | XP_006712620.1:p.Gly463_Lys464insLeuGly | |
| XM_005246632.2:c.1384_1389dup | XP_005246689.1:p.Gly463_Lys464insLeuGly | |
| XM_017004228.2:c.472_477dup | XP_016859717.1:p.Gly159_Lys160insLeuGly | |
| NM_001127207.2:c.1384_1389dup | NP_001120679.1:p.Gly463_Lys464insLeuGly | |
| NM_014140.4:c.1384_1389dup MANE Select | NP_054859.2:p.Gly463_Lys464insLeuGly |