Linked Data
dbSNP Id:
rs746930263
ExAC:
5:56155756 AC / A
gnomAD v2:
5-56155756-AC-A
gnomAD v4:
5-56859929-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56859930del , CM000667.2:g.56859930del | GRCh38 |
| NC_000005.9:g.56155757del , CM000667.1:g.56155757del | GRCh37 |
| NC_000005.8:g.56191514del | NCBI36 |
| NG_031884.1:g.49858del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.834+15del MANE Select | ENSP00000382423.3:n.834+15del | |
| ENST00000399503.3:c.834+15del | ENSP00000382423.3:n.834+15del | |
| NM_005921.1:c.834+15del | NP_005912.1:n.834+15del | |
| XM_005248519.3:c.456+15del | XP_005248576.2:n.456+15del | |
| XM_011543406.1:c.579+15del | XP_011541708.1:n.579+15del | |
| XM_011543407.1:c.834+15del | XP_011541709.1:n.834+15del | |
| XM_011543408.1:c.834+15del | XP_011541710.1:n.834+15del | |
| XM_017009484.1:c.423+15del | XP_016864973.1:n.423+15del | |
| XM_017009485.1:c.345+15del | XP_016864974.1:n.345+15del | |
| XR_001742068.2:n.865+15del | ||
| NM_005921.2:c.834+15del MANE Select | NP_005912.1:n.834+15del |