Linked Data
ClinVar Variation Id:
432659
ClinVar RCV Id:
RCV000498647
dbSNP Id:
rs1553213136
gnomAD v3:
1-152310993-GA-G
gnomAD v4:
1-152310993-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152310995del , CM000663.2:g.152310995del | GRCh38 |
| NC_000001.10:g.152283471del , CM000663.1:g.152283471del | GRCh37 |
| NC_000001.9:g.150550095del | NCBI36 |
| NG_016190.1:g.19210del , LRG_1028:g.19210del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.3892del MANE Select | ENSP00000357789.1:p.Ser1298LeufsTer? | |
| ENST00000368799.1:c.3892del | ENSP00000357789.1:p.Ser1298LeufsTer? | |
| NM_002016.1:c.3892del , LRG_1028t1:c.3892del | NP_002007.1:p.Ser1298LeufsTer? | |
| XM_011509329.1:c.3892del | XP_011507631.1:p.Ser1298LeufsTer? | |
| NM_002016.2:c.3892del MANE Select | NP_002007.1:p.Ser1298LeufsTer? |