Linked Data
ClinVar Variation Id:
356766
ClinVar RCV Id:
RCV000269280
RCV000304936
RCV000308019
RCV000340054
RCV000361982
RCV000405659
RCV001692032
dbSNP Id:
rs55851577
gnomAD v2:
6-42665548-TA-T
gnomAD v3:
6-42697810-TA-T
gnomAD v4:
6-42697810-TA-T
MyVariant Identifiers:
chr6:g.42665551del (hg19)
chr6:g.42665549del (hg19)
chr6:g.42697813del (hg38)
chr6:g.42697811del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42697826del , CM000668.2:g.42697826del | GRCh38 |
| NC_000006.11:g.42665564del , CM000668.1:g.42665564del | GRCh37 |
| NC_000006.10:g.42773542del | NCBI36 |
| NG_009176.1:g.29810del | |
| NG_009176.2:g.29810del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.*484del MANE Select | ENSP00000230381.5:n.*484del | |
| ENST00000230381.6:c.*484del | ENSP00000230381.5:n.*484del | |
| NM_000322.4:c.*484del | NP_000313.2:n.*484del | |
| XR_926295.3:n.2412del | ||
| NM_000322.5:c.*484del MANE Select | NP_000313.2:n.*484del |