Linked Data
dbSNP Id:
rs773381395
ExAC:
11:69462952 CA / C
gnomAD v2:
11-69462952-CA-C
gnomAD v4:
11-69648184-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648185del , CM000673.2:g.69648185del | GRCh38 |
| NC_000011.9:g.69462953del , CM000673.1:g.69462953del | GRCh37 |
| NC_000011.8:g.69172134del | NCBI36 |
| NG_007375.1:g.12081del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.723+43del MANE Select | ENSP00000227507.2:n.723+43del | |
| ENST00000227507.2:c.723+43del | ENSP00000227507.2:n.723+43del | |
| ENST00000536559.1:c.*186del | ENSP00000438482.1:n.*186del | |
| ENST00000542367.1:n.186+43del | ||
| NM_053056.2:c.723+43del | NP_444284.1:n.723+43del | |
| XM_006718653.2:c.747+43del | XP_006718716.1:n.747+43del | |
| NM_053056.3:c.723+43del MANE Select | NP_444284.1:n.723+43del |