Linked Data
gnomAD v4:
5-44305271-CCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.44305272_44305273del , CM000667.2:g.44305272_44305273del | GRCh38 |
| NC_000005.9:g.44305374_44305375del , CM000667.1:g.44305374_44305375del | GRCh37 |
| NC_000005.8:g.44341131_44341132del | NCBI36 |
| NG_011446.1:g.88410_88411del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264664.5:c.430-81_430-80del MANE Select | ENSP00000264664.4:n.430-81_430-80del | |
| ENST00000264664.4:c.430-81_430-80del | ENSP00000264664.4:n.430-81_430-80del | |
| NM_004465.1:c.430-81_430-80del | NP_004456.1:n.430-81_430-80del | |
| XM_005248264.2:c.430-81_430-80del | XP_005248321.1:n.430-81_430-80del | |
| XM_005248264.4:c.430-81_430-80del | XP_005248321.1:n.430-81_430-80del | |
| NM_004465.2:c.430-81_430-80del MANE Select | NP_004456.1:n.430-81_430-80del |