Linked Data
dbSNP Id:
rs751671211
ExAC:
11:46747369 TCTCA / T
gnomAD v2:
11-46747369-TCTCA-T
gnomAD v3:
11-46725819-TCTCA-T
gnomAD v4:
11-46725819-TCTCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46725827_46725830del , CM000673.2:g.46725827_46725830del | GRCh38 |
| NC_000011.9:g.46747377_46747380del , CM000673.1:g.46747377_46747380del | GRCh37 |
| NC_000011.8:g.46703953_46703956del | NCBI36 |
| NG_008953.1:g.11635_11638del , LRG_551:g.11635_11638del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311907.10:c.560-32_560-29del MANE Select | ENSP00000308541.5:n.560-32_560-29del | |
| ENST00000311907.9:c.560-32_560-29del | ENSP00000308541.5:n.560-32_560-29del | |
| ENST00000442468.1:c.530-32_530-29del | ENSP00000387413.1:n.530-32_530-29del | |
| ENST00000490274.1:n.340-32_340-29del | ||
| ENST00000530231.5:c.560-32_560-29del | ENSP00000433907.1:n.560-32_560-29del | |
| NM_000506.3:c.560-32_560-29del | NP_000497.1:n.560-32_560-29del | |
| NM_000506.4:c.560-32_560-29del , LRG_551t1:c.560-32_560-29del | NP_000497.1:n.560-32_560-29del | |
| NM_001311257.1:c.512-32_512-29del | NP_001298186.1:n.512-32_512-29del | |
| XR_428840.2:n.604-32_604-29del | ||
| XR_428840.4:n.595-32_595-29del | ||
| NM_000506.5:c.560-32_560-29del MANE Select | NP_000497.1:n.560-32_560-29del | |
| NM_001311257.2:c.512-32_512-29del | NP_001298186.1:n.512-32_512-29del |