Linked Data
ClinVar Variation Id:
56483
ClinVar RCV Id:
RCV000049896
dbSNP Id:
rs386833922
MyVariant Identifiers:
chr19:g.36333069_36333071delinsGG (hg19)
chr19:g.35842167_35842169delinsGG (hg38)
PubMed:
PMID:11317351
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35842167_35842169delinsGG , CM000681.2:g.35842167_35842169delinsGG | GRCh38 |
| NC_000019.9:g.36333069_36333071delinsGG , CM000681.1:g.36333069_36333071delinsGG | GRCh37 |
| NC_000019.8:g.41024909_41024911delinsGG | NCBI36 |
| NG_013356.2:g.32119_32121delinsCC , LRG_693:g.32119_32121delinsCC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378910.10:c.2618_2620delinsCC MANE Select | ENSP00000368190.4:p.Phe873SerfsTer? | |
| ENST00000353632.6:c.2618_2620delinsCC | ENSP00000343634.5:p.Phe873SerfsTer? | |
| ENST00000378910.9:c.2618_2620delinsCC | ENSP00000368190.4:p.Phe873SerfsTer? | |
| NM_004646.3:c.2618_2620delinsCC , LRG_693t1:c.2618_2620delinsCC | NP_004637.1:p.Phe873SerfsTer? | |
| NM_004646.4:c.2618_2620delinsCC MANE Select | NP_004637.1:p.Phe873SerfsTer? |