Linked Data
ClinVar Variation Id:
372768
ClinVar RCV Id:
RCV000414010
dbSNP Id:
rs1057517973
gnomAD v4:
1-152310880-ACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152310883_152310884del , CM000663.2:g.152310883_152310884del | GRCh38 |
| NC_000001.10:g.152283359_152283360del , CM000663.1:g.152283359_152283360del | GRCh37 |
| NC_000001.9:g.150549983_150549984del | NCBI36 |
| NG_016190.1:g.19322_19323del , LRG_1028:g.19322_19323del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368799.2:c.4004_4005del MANE Select | ENSP00000357789.1:p.Glu1335ValfsTer12 | |
| ENST00000368799.1:c.4004_4005del | ENSP00000357789.1:p.Glu1335ValfsTer12 | |
| NM_002016.1:c.4004_4005del , LRG_1028t1:c.4004_4005del | NP_002007.1:p.Glu1335ValfsTer12 | |
| XM_011509329.1:c.4004_4005del | XP_011507631.1:p.Glu1335ValfsTer12 | |
| NM_002016.2:c.4004_4005del MANE Select | NP_002007.1:p.Glu1335ValfsTer12 |