Linked Data
ClinVar Variation Id:
358366
ClinVar RCV Id:
RCV000288878
dbSNP Id:
rs564464856
gnomAD v2:
7-103112452-ACT-A
gnomAD v3:
7-103472005-ACT-A
gnomAD v4:
7-103472005-ACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103472008_103472009del , CM000669.2:g.103472008_103472009del | GRCh38 |
| NC_000007.13:g.103112455_103112456del , CM000669.1:g.103112455_103112456del | GRCh37 |
| NC_000007.12:g.102899691_102899692del | NCBI36 |
| NG_011877.1:g.522510_522511del | |
| NG_011877.2:g.522510_522511del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.*908_*909del (RELN) | ENSP00000388446.3:n.*908_*909del | |
| ENST00000428762.6:c.*805_*806del (RELN) MANE Select | ENSP00000392423.1:n.*805_*806del | |
| ENST00000429186.2:c.1203_1204del (RELN) | ENSP00000404818.2:n.1203_1204del | |
| ENST00000679371.1:n.2939_2940del (RELN) | ||
| ENST00000680248.1:n.4734_4735del (RELN) | ||
| ENST00000681034.1:c.*991_*992del (RELN) | ENSP00000506075.1:n.*991_*992del | |
| ENST00000681364.1:n.4431_4432del (RELN) | ||
| ENST00000343529.9:c.*805_*806del (RELN) | ENSP00000345694.5:n.*805_*806del | |
| ENST00000424685.2:c.*805_*806del (RELN) | ENSP00000388446.2:n.*805_*806del | |
| ENST00000428762.5:c.*805_*806del (RELN) | ENSP00000392423.1:n.*805_*806del | |
| NM_005045.3:c.*805_*806del (RELN) | NP_005036.2:n.*805_*806del | |
| NM_173054.2:c.*805_*806del (RELN) | NP_774959.1:n.*805_*806del | |
| NR_110141.1:n.1365+25340_1365+25341del (SLC26A5-AS1) | ||
| NM_005045.4:c.*805_*806del (RELN) MANE Select | NP_005036.2:n.*805_*806del | |
| NM_173054.3:c.*805_*806del (RELN) | NP_774959.1:n.*805_*806del |