Linked Data
dbSNP Id:
rs768882044
ExAC:
17:63532691 AG / A
gnomAD v2:
17-63532691-AG-A
gnomAD v4:
17-65536573-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.65536574del , CM000679.2:g.65536574del | GRCh38 |
| NC_000017.10:g.63532692del , CM000679.1:g.63532692del | GRCh37 |
| NC_000017.9:g.60963154del | NCBI36 |
| NG_012142.1:g.30049del , LRG_296:g.30049del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307078.10:c.1908-21del MANE Select | ENSP00000302625.5:n.1908-21del | |
| ENST00000307078.9:c.1908-21del | ENSP00000302625.5:n.1908-21del | |
| ENST00000375702.5:c.1713-21del | ENSP00000364854.5:n.1713-21del | |
| ENST00000578251.1:n.109del | ||
| ENST00000611991.1:c.397-7874del | ENSP00000481191.1:n.397-7874del | |
| ENST00000618960.4:c.1713-21del | ENSP00000478916.1:n.1713-21del | |
| NM_004655.3:c.1908-21del , LRG_296t1:c.1908-21del | NP_004646.3:n.1908-21del | |
| XM_011525319.1:c.1908-21del | XP_011523621.1:n.1908-21del | |
| XM_011525320.1:c.1908-21del | XP_011523622.1:n.1908-21del | |
| XM_011525321.1:c.1908-21del | XP_011523623.1:n.1908-21del | |
| XM_011525322.1:c.1713-21del | XP_011523624.1:n.1713-21del | |
| NM_001363813.1:c.1713-21del | NP_001350742.1:n.1713-21del | |
| NM_004655.4:c.1908-21del MANE Select | NP_004646.3:n.1908-21del | |
| XM_011525319.2:c.1908-21del | XP_011523621.1:n.1908-21del | |
| XM_011525321.2:c.1908-21del | XP_011523623.1:n.1908-21del | |
| XM_017025192.1:c.1908-21del | XP_016880681.1:n.1908-21del | |
| XM_017025193.1:c.1713-21del | XP_016880682.1:n.1713-21del |