Linked Data
ClinVar Variation Id:
370400
dbSNP Id:
rs1057516460
gnomAD v4:
2-26204189-CCAGATGCCTG-C
PubMed:
PMID:10352164
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26204192_26204201del , CM000664.2:g.26204192_26204201del | GRCh38 |
| NC_000002.11:g.26427061_26427070del , CM000664.1:g.26427061_26427070del | GRCh37 |
| NC_000002.10:g.26280565_26280574del | NCBI36 |
| NG_007121.1:g.45422_45431del | |
| NG_007121.2:g.45423_45432del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380649.8:c.1086-3_1092del | ||
| ENST00000492433.2:c.1086-3_1092del | ||
| ENST00000643057.1:c.*977-3_*983del | ||
| ENST00000643063.1:c.*132-3_*138del | ||
| ENST00000643233.1:c.*977-3_*983del | ||
| ENST00000644428.1:c.1086-3_1092del | ||
| ENST00000645274.1:c.981-3_987del | ||
| ENST00000646031.1:c.445-3_451del | ||
| ENST00000646483.1:c.952-3_958del | ||
| ENST00000380649.7:c.1086-3_1092del | ||
| NM_000182.4:c.1086-3_1092del | ||
| NM_000182.5:c.1086-3_1092del |