Linked Data
dbSNP Id:
rs377767438
MyVariant Identifiers:
chr10:g.43609954delinsGACCTGTGCCGCC (hg19)
chr10:g.43114506delinsGACCTGTGCCGCC (hg38)
PubMed:
PMID:15858153
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43114506delinsGACCTGTGCCGCC , CM000672.2:g.43114506delinsGACCTGTGCCGCC | GRCh38 |
| NC_000010.10:g.43609954delinsGACCTGTGCCGCC , CM000672.1:g.43609954delinsGACCTGTGCCGCC | GRCh37 |
| NC_000010.9:g.42929960delinsGACCTGTGCCGCC | NCBI36 |
| NG_007489.1:g.42438delinsGACCTGTGCCGCC , LRG_518:g.42438delinsGACCTGTGCCGCC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000615310.5:c.1510delinsGACCTGTGCCGCC | ENSP00000480088.2:p.Thr504delinsAspLeuCys... | |
| ENST00000683007.1:n.1480delinsGACCTGTGCCGCC | ||
| ENST00000683872.1:n.1471delinsGACCTGTGCCGCC | ||
| ENST00000340058.6:c.1906delinsGACCTGTGCCGCC | ENSP00000344798.4:p.Thr636delinsAspLeuCys... | |
| ENST00000355710.8:c.1906delinsGACCTGTGCCGCC MANE Select | ENSP00000347942.3:p.Thr636delinsAspLeuCys... | |
| ENST00000671844.1:c.*500delinsGACCTGTGCCGCC | ENSP00000500541.1:n.*500delinsGACCTGTGCCG... | |
| ENST00000672389.1:c.*500delinsGACCTGTGCCGCC | ENSP00000500252.1:n.*500delinsGACCTGTGCCG... | |
| ENST00000340058.5:c.1906delinsGACCTGTGCCGCC | ENSP00000344798.4:p.Thr636delinsAspLeuCys... | |
| ENST00000355710.7:c.1906delinsGACCTGTGCCGCC | ENSP00000347942.3:p.Thr636delinsAspLeuCys... | |
| ENST00000498820.5:c.457delinsGACCTGTGCCGCC | ENSP00000419080.1:p.Thr153delinsAspLeuCys... | |
| ENST00000615310.4:c.1289+3274delinsGACCTGTGCCGCC | ENSP00000480088.1:n.1289+3274delinsGACCTG... | |
| NM_020630.4:c.1906delinsGACCTGTGCCGCC , LRG_518t2:c.1906delinsGACCTGTGCCGCC | NP_065681.1:p.Thr636delinsAspLeuCysArgPro... | |
| NM_020975.4:c.1906delinsGACCTGTGCCGCC , LRG_518t1:c.1906delinsGACCTGTGCCGCC | NP_066124.1:p.Thr636delinsAspLeuCysArgPro... | |
| XM_011540027.1:c.1906delinsGACCTGTGCCGCC | XP_011538329.1:p.Thr636delinsAspLeuCysArg... | |
| NM_001355216.1:c.1144delinsGACCTGTGCCGCC | NP_001342145.1:p.Thr382delinsAspLeuCysArg... | |
| NM_020630.5:c.1906delinsGACCTGTGCCGCC | NP_065681.1:p.Thr636delinsAspLeuCysArgPro... | |
| NM_020975.5:c.1906delinsGACCTGTGCCGCC | NP_066124.1:p.Thr636delinsAspLeuCysArgPro... | |
| NM_020975.6:c.1906delinsGACCTGTGCCGCC MANE Select | NP_066124.1:p.Thr636delinsAspLeuCysArgPro... | |
| NM_020630.6:c.1906delinsGACCTGTGCCGCC | NP_065681.1:p.Thr636delinsAspLeuCysArgPro... |