Linked Data
dbSNP Id:
rs760387381
MyVariant Identifiers:
chr11:g.6411963_6411964insGCGCTGGCGCTC (hg19)
chr11:g.6390733_6390734insGCGCTGGCGCTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6390741_6390742insGCTCGCGCTGGC , CM000673.2:g.6390741_6390742insGCTCGCGCTGGC | GRCh38 |
| NC_000011.9:g.6411971_6411972insGCTCGCGCTGGC , CM000673.1:g.6411971_6411972insGCTCGCGCTGGC | GRCh37 |
| NC_000011.8:g.6368547_6368548insGCTCGCGCTGGC | NCBI36 |
| NG_011780.1:g.5317_5318insGCTCGCGCTGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.143_144insGCTCGCGCTGGC MANE Select | ENSP00000340409.4:p.Ala48_Leu49insLeuAlaLeuAla | |
| ENST00000342245.8:c.143_144insGCTCGCGCTGGC | ENSP00000340409.4:p.Ala48_Leu49insLeuAlaLeuAla | |
| ENST00000527275.5:c.143_144insGCTCGCGCTGGC | ENSP00000435350.1:p.Ala48_Leu49insLeuAlaLeuAla | |
| ENST00000530395.1:c.-96+102_-96+103insGCTCGCGCTGGC | ENSP00000431479.1:n.-96+102_-96+103insGCTCGCGCTGGC | |
| ENST00000531303.5:c.143_144insGCTCGCGCTGGC | ENSP00000432625.1:p.Ala48_Leu49insLeuAlaLeuAla | |
| ENST00000533123.5:c.143_144insGCTCGCGCTGGC | ENSP00000435950.1:p.Ala48_Leu49insLeuAlaLeuAla | |
| ENST00000533196.1:n.302_303insGCTCGCGCTGGC | ||
| ENST00000534405.5:c.143_144insGCTCGCGCTGGC | ENSP00000434353.1:p.Ala48_Leu49insLeuAlaLeuAla | |
| NM_000543.4:c.143_144insGCTCGCGCTGGC | NP_000534.3:p.Ala48_Leu49insLeuAlaLeuAla | |
| NM_001007593.2:c.143_144insGCTCGCGCTGGC | NP_001007594.2:p.Ala48_Leu49insLeuAlaLeuAla | |
| XM_005253075.3:c.143_144insGCTCGCGCTGGC | XP_005253132.1:p.Ala48_Leu49insLeuAlaLeuAla | |
| XM_011520303.1:c.143_144insGCTCGCGCTGGC | XP_011518605.1:p.Ala48_Leu49insLeuAlaLeuAla | |
| XM_011520304.1:c.143_144insGCTCGCGCTGGC | XP_011518606.1:p.Ala48_Leu49insLeuAlaLeuAla | |
| XR_930886.1:n.441_442insGCTCGCGCTGGC | ||
| NM_001318087.1:c.143_144insGCTCGCGCTGGC | NP_001305016.1:p.Ala48_Leu49insLeuAlaLeuAla | |
| NM_001318088.1:c.-819_-818insGCTCGCGCTGGC | NP_001305017.1:n.-819_-818insGCTCGCGCTGGC | |
| NM_001365135.1:c.143_144insGCTCGCGCTGGC | NP_001352064.1:p.Ala48_Leu49insLeuAlaLeuAla | |
| NR_027400.2:n.328_329insGCTCGCGCTGGC | ||
| NR_134502.1:n.328_329insGCTCGCGCTGGC | ||
| XM_011520304.2:c.143_144insGCTCGCGCTGGC | XP_011518606.1:p.Ala48_Leu49insLeuAlaLeuAla | |
| XR_001747940.2:n.268_269insGCTCGCGCTGGC | ||
| XR_002957158.1:n.268_269insGCTCGCGCTGGC | ||
| NM_000543.5:c.143_144insGCTCGCGCTGGC MANE Select | NP_000534.3:p.Ala48_Leu49insLeuAlaLeuAla | |
| NM_001007593.3:c.143_144insGCTCGCGCTGGC | NP_001007594.2:p.Ala48_Leu49insLeuAlaLeuAla | |
| NM_001318087.2:c.143_144insGCTCGCGCTGGC | NP_001305016.1:p.Ala48_Leu49insLeuAlaLeuAla | |
| NM_001318088.2:c.-819_-818insGCTCGCGCTGGC | NP_001305017.1:n.-819_-818insGCTCGCGCTGGC | |
| NM_001365135.2:c.143_144insGCTCGCGCTGGC | NP_001352064.1:p.Ala48_Leu49insLeuAlaLeuAla | |
| NR_027400.3:n.268_269insGCTCGCGCTGGC | ||
| NR_134502.2:n.268_269insGCTCGCGCTGGC |