Linked Data
dbSNP Id:
rs764567572
ExAC:
4:89421044 ACCTTT / A
gnomAD v2:
4-89421044-ACCTTT-A
gnomAD v4:
4-88499893-ACCTTT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88499894_88499898del , CM000666.2:g.88499894_88499898del | GRCh38 |
| NC_000004.11:g.89421045_89421049del , CM000666.1:g.89421045_89421049del | GRCh37 |
| NC_000004.10:g.89640068_89640072del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264350.8:c.2445-32_2445-28del MANE Select | ENSP00000264350.3:n.2445-32_2445-28del | |
| ENST00000264350.7:c.2445-32_2445-28del | ENSP00000264350.3:n.2445-32_2445-28del | |
| ENST00000502913.1:n.1166-32_1166-28del | ||
| ENST00000508159.1:c.1359-32_1359-28del | ENSP00000424129.1:n.1359-32_1359-28del | |
| ENST00000510223.5:n.1933-32_1933-28del | ||
| NM_016323.3:c.2445-32_2445-28del | NP_057407.2:n.2445-32_2445-28del | |
| XM_011532022.1:c.2220-32_2220-28del | XP_011530324.1:n.2220-32_2220-28del | |
| XM_011532023.1:c.2157-32_2157-28del | XP_011530325.1:n.2157-32_2157-28del | |
| XM_011532022.2:c.2673-32_2673-28del | XP_011530324.2:n.2673-32_2673-28del | |
| NM_016323.4:c.2445-32_2445-28del MANE Select | NP_057407.2:n.2445-32_2445-28del |