Linked Data
ClinVar Variation Id:
371339
dbSNP Id:
rs1057517193
gnomAD v2:
4-123664126-AG-A
gnomAD v3:
4-122742971-AG-A
gnomAD v4:
4-122742971-AG-A
MyVariant Identifiers:
chr4:g.123664129del (hg19)
chr4:g.123664127del (hg19)
chr4:g.122742974del (hg38)
chr4:g.122742972del (hg38)
PubMed:
PMID:24611592
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122742974del , CM000666.2:g.122742974del | GRCh38 |
| NC_000004.11:g.123664129del , CM000666.1:g.123664129del | GRCh37 |
| NC_000004.10:g.123883579del | NCBI36 |
| NG_021203.1:g.15273del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314218.8:c.1082del MANE Select | ENSP00000319062.3:p.Gly361ValfsTer22 | |
| ENST00000314218.7:c.1082del | ENSP00000319062.3:p.Gly361ValfsTer22 | |
| ENST00000542236.5:c.1082del | ENSP00000438273.1:p.Gly361ValfsTer22 | |
| NM_001178007.1:c.1082del | NP_001171478.1:p.Gly361ValfsTer22 | |
| NM_152618.2:c.1082del | NP_689831.2:p.Gly361ValfsTer22 | |
| XM_011531680.1:c.1082del | XP_011529982.1:p.Gly361ValfsTer22 | |
| XM_011531680.2:c.1082del | XP_011529982.1:p.Gly361ValfsTer22 | |
| XM_017007831.1:c.1082del | XP_016863320.1:p.Gly361ValfsTer22 | |
| NM_152618.3:c.1082del MANE Select | NP_689831.2:p.Gly361ValfsTer22 | |
| NM_001178007.2:c.1082del | NP_001171478.1:p.Gly361ValfsTer22 |