Linked Data
ClinVar Variation Id:
292701
ClinVar RCV Id:
RCV000269485
dbSNP Id:
rs373592376
gnomAD v2:
1-154245142-TC-T
gnomAD v3:
1-154272666-TC-T
gnomAD v4:
1-154272666-TC-T
MyVariant Identifiers:
chr1:g.154245147del (hg19)
chr1:g.154245143del (hg19)
chr1:g.154272671del (hg38)
chr1:g.154272667del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154272671del , CM000663.2:g.154272671del | GRCh38 |
| NC_000001.10:g.154245147del , CM000663.1:g.154245147del | GRCh37 |
| NC_000001.9:g.152511771del | NCBI36 |
| NG_007369.1:g.5109del , LRG_64:g.5109del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447768.7:c.-53del | ENSP00000403848.2:n.-53del | |
| ENST00000459914.2:n.49del | ||
| ENST00000471326.6:n.65del | ||
| ENST00000477780.3:n.35del | ||
| ENST00000483970.7:c.-53del | ENSP00000435088.1:n.-53del | |
| ENST00000531435.6:n.118del | ||
| ENST00000696929.1:c.-53del | ENSP00000512978.1:n.-53del | |
| ENST00000696931.1:n.49del | ||
| ENST00000696932.1:c.-53del | ENSP00000512979.1:n.-53del | |
| ENST00000696933.1:c.-53del | ENSP00000512980.1:n.-53del | |
| ENST00000696938.1:c.-53del | ENSP00000512983.1:n.-53del | |
| ENST00000696941.1:c.-108del | ENSP00000512986.1:n.-108del | |
| ENST00000696945.1:c.-233del | ENSP00000512990.1:n.-233del | |
| ENST00000696965.1:c.-114del | ENSP00000513004.1:n.-114del | |
| ENST00000696966.1:c.-233del | ENSP00000513005.1:n.-233del | |
| ENST00000697592.1:c.-137del | ENSP00000513356.1:n.-137del | |
| ENST00000697830.1:c.-58del | ENSP00000513452.1:n.-58del | |
| ENST00000328703.12:c.-53del MANE Select | ENSP00000329002.7:n.-53del | |
| ENST00000328703.11:c.-53del | ENSP00000329002.7:n.-53del | |
| ENST00000447768.6:c.-53del | ENSP00000403848.2:n.-53del | |
| ENST00000457918.6:c.-53del | ENSP00000411448.2:n.-53del | |
| ENST00000477780.2:n.35del | ||
| ENST00000483970.6:c.-53del | ENSP00000435088.1:n.-53del | |
| ENST00000531435.5:n.43del | ||
| NM_001018837.1:c.-53del | NP_001018238.1:n.-53del | |
| NM_006118.3:c.-53del , LRG_64t1:c.-53del | NP_006109.2:n.-53del | |
| NM_001018837.2:c.-53del | NP_001018238.1:n.-53del | |
| NM_006118.4:c.-53del MANE Select | NP_006109.2:n.-53del |