Linked Data
dbSNP Id:
rs778947597
ExAC:
11:47364301 CGGGT / C
gnomAD v2:
11-47364301-CGGGT-C
gnomAD v4:
11-47342750-CGGGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47342761_47342764del , CM000673.2:g.47342761_47342764del | GRCh38 |
| NC_000011.9:g.47364312_47364315del , CM000673.1:g.47364312_47364315del | GRCh37 |
| NC_000011.8:g.47320888_47320891del | NCBI36 |
| NG_007667.1:g.14949_14952del , LRG_386:g.14949_14952del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.1458-10_1458-7del MANE Select | ENSP00000442795.1:n.1458-10_1458-7del | |
| ENST00000256993.8:c.1458-10_1458-7del | ENSP00000256993.5:n.1458-10_1458-7del | |
| ENST00000399249.6:c.1458-10_1458-7del | ENSP00000382193.2:n.1458-10_1458-7del | |
| ENST00000544791.1:c.1458-10_1458-7del | ENSP00000444259.1:n.1458-10_1458-7del | |
| ENST00000545968.5:c.1458-10_1458-7del | ENSP00000442795.1:n.1458-10_1458-7del | |
| NM_000256.3:c.1458-10_1458-7del , LRG_386t1:c.1458-10_1458-7del MANE Select | NP_000247.2:n.1458-10_1458-7del | |
| XM_011520117.1:c.1440-10_1440-7del | XP_011518419.1:n.1440-10_1440-7del | |
| XM_011520118.1:c.1458-10_1458-7del | XP_011518420.1:n.1458-10_1458-7del |