Linked Data
dbSNP Id:
rs757687772
ExAC:
11:67353843 GC / G
gnomAD v2:
11-67353843-GC-G
gnomAD v3:
11-67586372-GC-G
gnomAD v4:
11-67586372-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586378del , CM000673.2:g.67586378del | GRCh38 |
| NC_000011.9:g.67353849del , CM000673.1:g.67353849del | GRCh37 |
| NC_000011.8:g.67110425del | NCBI36 |
| NG_012075.1:g.7784del , LRG_723:g.7784del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.337-11del | ENSP00000381604.1:n.337-11del | |
| ENST00000398606.10:c.445-11del MANE Select | ENSP00000381607.3:n.445-11del | |
| ENST00000646888.1:c.*161-11del | ENSP00000494477.1:n.*161-11del | |
| ENST00000398603.5:c.337-11del | ENSP00000381604.1:n.337-11del | |
| ENST00000398606.7:c.445-11del | ENSP00000381607.3:n.445-11del | |
| ENST00000467591.1:n.556-11del | ||
| ENST00000494593.1:n.1406del | ||
| ENST00000495996.1:c.171-11del | ENSP00000484686.1:n.171-11del | |
| ENST00000498765.5:c.508-11del | ||
| NM_000852.3:c.445-11del , LRG_723t1:c.445-11del | NP_000843.1:n.445-11del | |
| NM_000852.4:c.445-11del MANE Select | NP_000843.1:n.445-11del |