Linked Data
dbSNP Id:
rs1394948117
gnomAD v2:
5-78557940-AC-A
gnomAD v3:
5-79262117-AC-A
gnomAD v4:
5-79262117-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79262120del , CM000667.2:g.79262120del | GRCh38 |
| NC_000005.9:g.78557943del , CM000667.1:g.78557943del | GRCh37 |
| NC_000005.8:g.78593699del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396137.5:c.1033-15790del MANE Select | ENSP00000379441.4:n.1033-15790del | |
| ENST00000396137.4:c.1033-15790del | ENSP00000379441.4:n.1033-15790del | |
| NM_152405.4:c.1033-15790del | NP_689618.4:n.1033-15790del | |
| XM_005248430.1:c.1033-15790del | XP_005248487.1:n.1033-15790del | |
| XM_011543155.1:c.1033-15790del | XP_011541457.1:n.1033-15790del | |
| XM_005248430.3:c.1033-15790del | XP_005248487.1:n.1033-15790del | |
| XM_011543155.3:c.1033-15790del | XP_011541457.1:n.1033-15790del | |
| NM_152405.5:c.1033-15790del MANE Select | NP_689618.4:n.1033-15790del |