Linked Data
dbSNP Id:
rs1297816400
gnomAD v2:
17-73564917-CAGGGT-C
gnomAD v3:
17-75568836-CAGGGT-C
gnomAD v4:
17-75568836-CAGGGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75568843_75568847del , CM000679.2:g.75568843_75568847del | GRCh38 |
| NC_000017.10:g.73564924_73564928del , CM000679.1:g.73564924_73564928del | GRCh37 |
| NC_000017.9:g.71076519_71076523del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392550.8:c.1322+4_1322+8del | ||
| ENST00000167462.9:c.1322+4_1322+8del | ||
| ENST00000392550.7:c.1322+4_1322+8del | ||
| ENST00000545227.6:n.1499+4_1499+8del | ||
| ENST00000577200.5:c.1322+4_1322+8del | ||
| ENST00000577500.5:n.842+4_842+8del | ||
| ENST00000578638.5:c.313+4_313+8del | ||
| ENST00000578719.1:c.22+4_22+8del | ||
| NM_001031803.1:c.1322+4_1322+8del | ||
| NM_004524.2:c.1322+4_1322+8del | ||
| XM_006721897.2:c.1322+4_1322+8del | ||
| XM_011524801.1:c.1322+4_1322+8del | ||
| XM_011524802.1:c.1322+4_1322+8del | ||
| XM_011524803.1:c.1322+4_1322+8del | ||
| XM_011524804.1:c.1322+4_1322+8del | ||
| XM_011524805.1:c.1322+4_1322+8del | ||
| XM_011524806.1:c.1322+4_1322+8del | ||
| XM_011524807.1:c.1124+4_1124+8del | ||
| XM_017024625.1:c.1322+4_1322+8del | ||
| XM_017024626.1:c.1322+4_1322+8del | ||
| XM_017024627.1:c.1322+4_1322+8del | ||
| XM_017024628.1:c.1322+4_1322+8del | ||
| XM_017024629.1:c.1322+4_1322+8del | ||
| XM_017024630.1:c.1322+4_1322+8del | ||
| XM_017024631.1:c.1322+4_1322+8del | ||
| XR_001752508.1:n.1447+4_1447+8del | ||
| XR_002957999.1:n.1447+4_1447+8del | ||
| XR_002958000.1:n.1514+4_1514+8del | ||
| XR_002958001.1:n.1557+4_1557+8del | ||
| XR_002958002.1:n.1486+4_1486+8del | ||
| XR_002958003.1:n.1447+4_1447+8del | ||
| XR_002958004.1:n.1565+4_1565+8del | ||
| XR_002958005.1:n.1583+4_1583+8del | ||
| NM_001031803.2:c.1322+4_1322+8del | ||
| NM_004524.3:c.1322+4_1322+8del |