Linked Data
dbSNP Id:
rs908449087
gnomAD v2:
1-26865947-TG-T
gnomAD v3:
1-26539456-TG-T
gnomAD v4:
1-26539456-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26539457del , CM000663.2:g.26539457del | GRCh38 |
| NC_000001.10:g.26865948del , CM000663.1:g.26865948del | GRCh37 |
| NC_000001.9:g.26738535del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374168.7:c.108+2488del MANE Select | ENSP00000363283.2:n.108+2488del | |
| ENST00000374166.8:c.108+2488del | ENSP00000363281.4:n.108+2488del | |
| ENST00000374168.6:c.108+2488del | ENSP00000363283.2:n.108+2488del | |
| ENST00000524436.5:n.254+2488del | ||
| ENST00000525525.5:c.*95+2488del | ENSP00000434616.1:n.*95+2488del | |
| ENST00000526040.6:c.108+2488del | ENSP00000436990.1:n.108+2488del | |
| ENST00000526792.5:c.-169+2488del | ENSP00000431651.1:n.-169+2488del | |
| ENST00000529454.5:c.-52+2488del | ENSP00000433039.1:n.-52+2488del | |
| NM_002953.3:c.108+2488del | NP_002944.2:n.108+2488del | |
| XM_005245967.2:c.-169+2488del | XP_005246024.1:n.-169+2488del | |
| XM_011541898.1:c.-169+2488del | XP_011540200.1:n.-169+2488del | |
| XM_024448871.1:c.-169+2488del | XP_024304639.1:n.-169+2488del | |
| NM_002953.4:c.108+2488del MANE Select | NP_002944.2:n.108+2488del |