Linked Data
ClinVar Variation Id:
155904
ClinVar RCV Id:
RCV000144038
dbSNP Id:
rs587777702
MyVariant Identifiers:
chr11:g.44286655_44286664delinsAGTTGCCATCTCTGTTGAGATCTTAG (hg19)
chr11:g.44265105_44265114delinsAGTTGCCATCTCTGTTGAGATCTTAG (hg38)
PubMed:
PMID:23401352
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44265105_44265114delinsAGTTGCCATCTCTGTTGAGATCTTAG , CM000673.2:g.44265105_44265114delinsAGTTGCCATCTCTGTTGAGATCTTAG | GRCh38 |
| NC_000011.9:g.44286655_44286664delinsAGTTGCCATCTCTGTTGAGATCTTAG , CM000673.1:g.44286655_44286664delinsAGTTGCCATCTCTGTTGAGATCTTAG | GRCh37 |
| NC_000011.8:g.44243231_44243240delinsAGTTGCCATCTCTGTTGAGATCTTAG | NCBI36 |
| NG_015809.1:g.50053_50062delinsCTAAGATCTCAACAGAGATGGCAACT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000652299.1:c.976_985delinsCTAAGATCTCAACAGAGATGGCAACT MANE Select | ENSP00000498217.1:p.Asp326LeufsTer? | |
| ENST00000329255.3:c.976_985delinsCTAAGATCTCAACAGAGATGGCAACT | ENSP00000332744.3:p.Asp326LeufsTer? | |
| NM_021926.3:c.976_985delinsCTAAGATCTCAACAGAGATGGCAACT | NP_068745.2:p.Asp326LeufsTer? | |
| XM_011520265.1:c.454_463delinsCTAAGATCTCAACAGAGATGGCAACT | XP_011518567.1:p.Asp152LeufsTer? | |
| XM_011520266.1:c.454_463delinsCTAAGATCTCAACAGAGATGGCAACT | XP_011518568.1:p.Asp152LeufsTer? | |
| NM_021926.4:c.976_985delinsCTAAGATCTCAACAGAGATGGCAACT MANE Select | NP_068745.2:p.Asp326LeufsTer? |