Linked Data
ClinVar Variation Id:
1346992
ClinVar RCV Id:
RCV003891300
dbSNP Id:
rs773263037
ExAC:
5:177035635 CG / C
gnomAD v2:
5-177035635-CG-C
gnomAD v3:
5-177608634-CG-C
gnomAD v4:
5-177608634-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177608637del , CM000667.2:g.177608637del | GRCh38 |
| NC_000005.9:g.177035638del , CM000667.1:g.177035638del | GRCh37 |
| NC_000005.8:g.176968244del | NCBI36 |
| NG_015977.1:g.13520del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000029410.10:c.723+15del MANE Select | ENSP00000029410.5:n.723+15del | |
| ENST00000029410.9:c.723+15del | ENSP00000029410.5:n.723+15del | |
| ENST00000505145.1:n.1821+15del | ||
| ENST00000505433.5:c.*229+15del | ENSP00000425591.1:n.*229+15del | |
| ENST00000515353.1:n.1273del | ||
| NM_007255.2:c.723+15del | NP_009186.1:n.723+15del | |
| XM_005265805.2:c.381+15del | XP_005265862.1:n.381+15del | |
| XM_006714816.2:c.243+15del | XP_006714879.1:n.243+15del | |
| XM_011534421.1:c.381+15del | XP_011532723.1:n.381+15del | |
| XM_006714816.4:c.243+15del | XP_006714879.1:n.243+15del | |
| XM_017008999.2:c.381+15del | XP_016864488.1:n.381+15del | |
| NM_007255.3:c.723+15del MANE Select | NP_009186.1:n.723+15del |