Linked Data
ClinVar Variation Id:
189307
dbSNP Id:
rs793888520
gnomAD v2:
1-55512243-CTT-C
gnomAD v3:
1-55046570-CTT-C
gnomAD v4:
1-55046570-CTT-C
MyVariant Identifiers:
chr1:g.55512245_55512246del (hg19)
chr1:g.55512244_55512245del (hg19)
chr1:g.55046572_55046573del (hg38)
chr1:g.55046571_55046572del (hg38)
PubMed:
PMID:26036859
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55046572_55046573del , CM000663.2:g.55046572_55046573del | GRCh38 |
| NC_000001.10:g.55512245_55512246del , CM000663.1:g.55512245_55512246del | GRCh37 |
| NC_000001.9:g.55284833_55284834del | NCBI36 |
| NG_009061.1:g.12026_12027del , LRG_275:g.12026_12027del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.449_450del | ENSP00000501161.2:p.Phe150CysfsTer20 | |
| ENST00000710286.1:c.806_807del | ENSP00000518176.1:p.Phe269CysfsTer20 | |
| ENST00000673662.1:n.119_120del | ||
| ENST00000673726.1:c.449_450del | ENSP00000501004.1:p.Phe150CysfsTer20 | |
| ENST00000673903.1:c.74_75del | ENSP00000501257.1:p.Phe25CysfsTer20 | |
| ENST00000302118.5:c.449_450del MANE Select | ENSP00000303208.5:p.Phe150CysfsTer20 | |
| NM_174936.3:c.449_450del , LRG_275t1:c.449_450del | NP_777596.2:p.Phe150CysfsTer20 | |
| NR_110451.1:n.183-5706_183-5705del | ||
| NM_174936.4:c.449_450del MANE Select | NP_777596.2:p.Phe150CysfsTer20 | |
| NR_110451.2:n.183-5706_183-5705del |