Linked Data
ClinVar Variation Id:
189243
dbSNP Id:
rs786204786
ExAC:
13:23869568 CT / C
gnomAD v2:
13-23869568-CT-C
gnomAD v3:
13-23295429-CT-C
gnomAD v4:
13-23295429-CT-C
MyVariant Identifiers:
chr13:g.23869573del (hg19)
chr13:g.23869569del (hg19)
chr13:g.23295434del (hg38)
chr13:g.23295430del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23295434del , CM000675.2:g.23295434del | GRCh38 |
| NC_000013.10:g.23869573del , CM000675.1:g.23869573del | GRCh37 |
| NC_000013.9:g.22767573del | NCBI36 |
| NG_008759.1:g.119514del , LRG_207:g.119514del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683210.1:c.2186-6187del (SACS) | ENSP00000506739.1:n.2186-6187del | |
| ENST00000218867.4:c.525del (SGCG) MANE Select | ENSP00000218867.3:p.Phe175LeufsTer20 | |
| ENST00000218867.3:c.525del (SGCG) | ENSP00000218867.3:p.Phe175LeufsTer20 | |
| NM_000231.2:c.525del , LRG_207t1:c.525del (SGCG) | NP_000222.1:p.Phe175LeufsTer20 | |
| XM_005266505.2:c.525del (SGCG) | XP_005266562.1:p.Phe175LeufsTer20 | |
| XM_006719861.2:c.579del (SGCG) | XP_006719924.1:p.Phe193LeufsTer20 | |
| XM_006719861.3:c.579del (SGCG) | XP_006719924.1:p.Phe193LeufsTer20 | |
| XM_024449397.1:c.525del (SGCG) | XP_024305165.1:p.Phe175LeufsTer20 | |
| NM_000231.3:c.525del (SGCG) MANE Select | NP_000222.2:p.Phe175LeufsTer20 | |
| NM_001378244.1:c.579del (SGCG) | NP_001365173.1:p.Phe193LeufsTer20 | |
| NM_001378245.1:c.525del (SGCG) | NP_001365174.1:p.Phe175LeufsTer20 | |
| NM_001378246.1:c.525del (SGCG) | NP_001365175.1:p.Phe175LeufsTer20 |