Linked Data
ClinVar Variation Id:
3074025
ClinVar RCV Id:
RCV004012567
dbSNP Id:
rs371488778
gnomAD v2:
1-55505552-A-AATGCTG
gnomAD v3:
1-55039879-A-AATGCTG
gnomAD v4:
1-55039879-A-AATGCTG
MyVariant Identifiers:
chr1:g.55505553_55505555delinsATGCTGCTG (hg19)
chr1:g.55039880_55039882delinsATGCTGCTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55039879_55039880insATGCTG , CM000663.2:g.55039879_55039880insATGCTG | GRCh38 |
| NC_000001.10:g.55505552_55505553insATGCTG , CM000663.1:g.55505552_55505553insATGCTG | GRCh37 |
| NC_000001.9:g.55278140_55278141insATGCTG | NCBI36 |
| NG_009061.1:g.5333_5334insATGCTG , LRG_275:g.5333_5334insATGCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.42_43insATGCTG | ENSP00000501161.2:p.Pro14_Leu15insMetLeu | |
| ENST00000710286.1:c.399_400insATGCTG | ENSP00000518176.1:p.Pro133_Leu134insMetLeu | |
| ENST00000673726.1:c.42_43insATGCTG | ENSP00000501004.1:p.Pro14_Leu15insMetLeu | |
| ENST00000302118.5:c.42_43insATGCTG MANE Select | ENSP00000303208.5:p.Pro14_Leu15insMetLeu | |
| NM_174936.3:c.42_43insATGCTG , LRG_275t1:c.42_43insATGCTG | NP_777596.2:p.Pro14_Leu15insMetLeu | |
| NM_174936.4:c.42_43insATGCTG MANE Select | NP_777596.2:p.Pro14_Leu15insMetLeu |