Linked Data
dbSNP Id:
rs1235359055
gnomAD v2:
18-11987134-GA-G
gnomAD v3:
18-11987135-GA-G
gnomAD v4:
18-11987135-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.11987136del , CM000680.2:g.11987136del | GRCh38 |
| NC_000018.9:g.11987135del , CM000680.1:g.11987135del | GRCh37 |
| NC_000018.8:g.11977135del | NCBI36 |
| NG_028104.1:g.10681del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269159.8:c.96+5371del MANE Select | ENSP00000269159.3:n.96+5371del | |
| ENST00000269159.7:c.96+5371del | ENSP00000269159.3:n.96+5371del | |
| ENST00000383376.9:c.96+5371del | ENSP00000372867.4:n.96+5371del | |
| ENST00000588752.5:n.181+5931del | ||
| ENST00000588927.5:c.-464+5443del | ENSP00000464767.1:n.-464+5443del | |
| ENST00000589238.5:c.-472+6006del | ENSP00000465416.1:n.-472+6006del | |
| ENST00000590107.5:c.96+5371del | ENSP00000466059.1:n.96+5371del | |
| ENST00000590138.1:c.96+5371del | ENSP00000465938.1:n.96+5371del | |
| ENST00000625802.2:c.96+5371del | ENSP00000486461.1:n.96+5371del | |
| NM_014214.2:c.96+5371del | NP_055029.1:n.96+5371del | |
| XM_011525661.1:c.-399+5371del | XP_011523963.1:n.-399+5371del | |
| XM_011525661.3:c.-399+5371del | XP_011523963.1:n.-399+5371del | |
| NM_014214.3:c.96+5371del MANE Select | NP_055029.1:n.96+5371del |