Linked Data
ClinVar Variation Id:
188092
ClinVar RCV Id:
RCV000167937
dbSNP Id:
rs786204063
gnomAD v4:
1-173911958-AAAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173911965_173911967del , CM000663.2:g.173911965_173911967del | GRCh38 |
| NC_000001.10:g.173881103_173881105del , CM000663.1:g.173881103_173881105del | GRCh37 |
| NC_000001.9:g.172147726_172147728del | NCBI36 |
| NG_012462.1:g.10418_10420del , LRG_577:g.10418_10420del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367698.4:c.462_464del MANE Select | ENSP00000356671.3:p.Phe155del | |
| ENST00000367698.3:c.462_464del | ENSP00000356671.3:p.Phe155del | |
| ENST00000487183.1:n.167_169del | ||
| ENST00000617423.4:c.462_464del | ENSP00000478688.1:p.Phe155del | |
| NM_000488.3:c.462_464del , LRG_577t1:c.462_464del | NP_000479.1:p.Phe155del | |
| XM_005245198.2:c.318_320del | XP_005245255.1:p.Phe107del | |
| NM_001365052.1:c.318_320del | NP_001351981.1:p.Phe107del | |
| NM_000488.4:c.462_464del MANE Select | NP_000479.1:p.Phe155del | |
| NM_001365052.2:c.318_320del | NP_001351981.1:p.Phe107del | |
| NM_001386302.1:c.462_464del | NP_001373231.1:p.Phe155del | |
| NM_001386303.1:c.543_545del | NP_001373232.1:p.Phe182del | |
| NM_001386304.1:c.462_464del | NP_001373233.1:p.Phe155del | |
| NM_001386305.1:c.462_464del | NP_001373234.1:p.Phe155del | |
| NM_001386306.1:c.409-1070_409-1068del | NP_001373235.1:n.409-1070_409-1068del |