Linked Data
dbSNP Id:
rs990172651
gnomAD v2:
4-3258425-CG-C
gnomAD v3:
4-3256698-CG-C
gnomAD v4:
4-3256698-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3256702del , CM000666.2:g.3256702del | GRCh38 |
| NC_000004.11:g.3258429del , CM000666.1:g.3258429del | GRCh37 |
| NC_000004.10:g.3228227del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000505599.5:c.729+845del | ENSP00000425405.1:n.729+845del | |
| ENST00000510580.1:c.765+809del | ENSP00000420966.1:n.765+809del | |
| XM_011513464.1:c.729+845del | XP_011511766.1:n.729+845del | |
| XR_924950.1:n.753+845del |