Linked Data
gnomAD v4:
17-44374976-GCCCCACCACGGCCCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44374984_44374998del , CM000679.2:g.44374984_44374998del | GRCh38 |
| NC_000017.10:g.42452352_42452366del , CM000679.1:g.42452352_42452366del | GRCh37 |
| NC_000017.9:g.39807878_39807892del | NCBI36 |
| NG_008331.1:g.19515_19529del , LRG_479:g.19515_19529del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.2841+7_2841+21del | ||
| ENST00000648408.1:c.2272+7_2272+21del | ||
| ENST00000262407.5:c.2841+7_2841+21del | ||
| ENST00000587295.5:c.253+842_253+856del | ||
| ENST00000592462.5:n.2122_2136del | ||
| NM_000419.3:c.2841+7_2841+21del , LRG_479t1:c.2841+7_2841+21del | ||
| XM_011524749.1:c.2841+7_2841+21del | ||
| XM_011524750.1:c.2841+7_2841+21del | ||
| NM_000419.4:c.2841+7_2841+21del | ||
| NM_000419.5:c.2841+7_2841+21del |