Linked Data
dbSNP Id:
rs1215715651
gnomAD v2:
5-156890279-G-GCAA
gnomAD v4:
5-157463271-G-GCAA
MyVariant Identifiers:
chr5:g.156890279_156890280insCAA (hg19)
chr5:g.157463271_157463272insCAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157463273_157463274insACA , CM000667.2:g.157463273_157463274insACA | GRCh38 |
| NC_000005.9:g.156890281_156890282insACA , CM000667.1:g.156890281_156890282insACA | GRCh37 |
| NC_000005.8:g.156822859_156822860insACA | NCBI36 |
| NG_016626.1:g.8255_8256insACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.217_218insACA (NIPAL4) MANE Select | ENSP00000311687.8:p.Ser72_Ser73insAsn | |
| ENST00000435489.7:c.217_218insACA (NIPAL4) | ENSP00000406456.3:p.Ser72_Ser73insAsn | |
| ENST00000311946.7:c.403_404insACA (NIPAL4) | ENSP00000311687.7:p.Ser134_Ser135insAsn | |
| ENST00000435489.6:c.403_404insACA (NIPAL4) | ENSP00000406456.2:p.Ser134_Ser135insAsn | |
| ENST00000517951.5:c.*1741+24993_*1741+24994insTTG (ADAM19) | ENSP00000428376.1:n.*1741+24993_*1741+24994insTTG | |
| ENST00000519150.1:c.315_316insACA (NIPAL4) | ENSP00000430810.1:p.Ala105_Ala106insThr | |
| ENST00000519946.1:n.431_432insACA (NIPAL4) | ||
| ENST00000521390.5:n.322_323insACA (NIPAL4) | ||
| NM_001099287.1:c.403_404insACA (NIPAL4) | NP_001092757.1:p.Ser134_Ser135insAsn | |
| NM_001172292.1:c.403_404insACA (NIPAL4) | NP_001165763.1:p.Ser134_Ser135insAsn | |
| XM_011534552.1:c.-93_-92insACA (NIPAL4) | XP_011532854.1:n.-93_-92insACA | |
| XM_024446043.1:c.-240_-239insACA (NIPAL4) | XP_024301811.1:n.-240_-239insACA | |
| NM_001099287.2:c.217_218insACA (NIPAL4) MANE Select | NP_001092757.2:p.Ser72_Ser73insAsn |