Linked Data
ClinVar Variation Id:
183293
ClinVar RCV Id:
RCV000162114
dbSNP Id:
rs730882208
MyVariant Identifiers:
chr11:g.1774803_1774817dupATGAAGACGTCGCCC (hg19)
chr11:g.1774802_1774803insATGAAGACGTCGCCC (hg19)
chr11:g.1753573_1753587dupATGAAGACGTCGCCC (hg38)
chr11:g.1753572_1753573insATGAAGACGTCGCCC (hg38)
PubMed:
PMID:25558065
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753574_1753588dup , CM000673.2:g.1753574_1753588dup | GRCh38 |
| NC_000011.9:g.1774804_1774818dup , CM000673.1:g.1774804_1774818dup | GRCh37 |
| NC_000011.8:g.1731380_1731394dup | NCBI36 |
| NG_008655.1:g.15406_15420dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000236671.7:c.1155_1169dup MANE Select | ENSP00000236671.2:p.Phe389_Ile390insMetGl... | |
| ENST00000367196.4:c.1050_1064dup | ENSP00000356164.4:p.Phe354_Ile355insMetGl... | |
| ENST00000427721.3:c.580_594dup | ||
| ENST00000429746.2:c.1050_1064dup | ENSP00000402586.2:p.Phe354_Ile355insMetGl... | |
| ENST00000433655.6:c.*321_*335dup | ENSP00000404902.1:n.*321_*335dup | |
| ENST00000438213.6:c.1272_1286dup | ENSP00000415036.2:p.Phe428_Ile429insMetGl... | |
| ENST00000636397.1:c.1071+216_1071+230dup | ENSP00000489910.1:n.1071+216_1071+230dup | |
| ENST00000636571.1:c.1134_1148dup | ENSP00000490770.1:p.Phe382_Ile383insMetGl... | |
| ENST00000636579.1:c.72+216_72+230dup | ENSP00000490489.1:n.72+216_72+230dup | |
| ENST00000636615.1:c.1071+216_1071+230dup | ENSP00000490014.1:n.1071+216_1071+230dup | |
| ENST00000636843.1:c.1149_1163dup | ENSP00000490897.1:p.Phe387_Ile388insMetGl... | |
| ENST00000637158.1:n.753_767dup | ||
| ENST00000637381.2:n.3583_3597dup | ||
| ENST00000637387.1:c.1134_1148dup | ENSP00000490598.1:p.Phe382_Ile383insMetGl... | |
| ENST00000637815.2:c.1137_1151dup | ENSP00000490344.1:p.Phe383_Ile384insMetGl... | |
| ENST00000637915.1:c.1146_1160dup | ENSP00000490471.1:p.Phe386_Ile387insMetGl... | |
| ENST00000637937.1:n.463_477dup | ||
| ENST00000678991.1:c.*1016_*1030dup | ENSP00000503019.1:n.*1016_*1030dup | |
| ENST00000236671.6:c.1155_1169dup | ENSP00000236671.2:p.Phe389_Ile390insMetGl... | |
| ENST00000427721.2:c.471+216_471+230dup | ENSP00000415840.2:n.471+216_471+230dup | |
| ENST00000429746.1:c.486_500dup | ENSP00000402586.1:p.Phe166_Ile167insMetGl... | |
| ENST00000433655.5:c.*321_*335dup | ENSP00000404902.1:n.*321_*335dup | |
| NM_001909.4:c.1155_1169dup | NP_001900.1:p.Phe389_Ile390insMetGlyAspVa... | |
| NM_001909.5:c.1155_1169dup MANE Select | NP_001900.1:p.Phe389_Ile390insMetGlyAspVa... |