Linked Data
dbSNP Id:
rs1266507621
gnomAD v3:
11-47341909-C-CTCTCTCTCTGTTTCTCCCTGTG
gnomAD v4:
11-47341909-C-CTCTCTCTCTGTTTCTCCCTGTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47341921_47341942dup , CM000673.2:g.47341921_47341942dup | GRCh38 |
| NC_000011.9:g.47363472_47363493dup , CM000673.1:g.47363472_47363493dup | GRCh37 |
| NC_000011.8:g.47320048_47320069dup | NCBI36 |
| NG_007667.1:g.15772_15793dup , LRG_386:g.15772_15793dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.1790+60_1790+81dup MANE Select | ENSP00000442795.1:n.1790+60_1790+81dup | |
| ENST00000256993.8:c.1790+60_1790+81dup | ENSP00000256993.5:n.1790+60_1790+81dup | |
| ENST00000399249.6:c.1790+60_1790+81dup | ENSP00000382193.2:n.1790+60_1790+81dup | |
| ENST00000544791.1:c.1790+60_1790+81dup | ENSP00000444259.1:n.1790+60_1790+81dup | |
| ENST00000545968.5:c.1790+60_1790+81dup | ENSP00000442795.1:n.1790+60_1790+81dup | |
| NM_000256.3:c.1790+60_1790+81dup , LRG_386t1:c.1790+60_1790+81dup MANE Select | NP_000247.2:n.1790+60_1790+81dup | |
| XM_011520117.1:c.1772+60_1772+81dup | XP_011518419.1:n.1772+60_1772+81dup | |
| XM_011520118.1:c.1790+60_1790+81dup | XP_011518420.1:n.1790+60_1790+81dup |