Linked Data
ClinVar Variation Id:
1731397
ClinVar RCV Id:
RCV002457049
dbSNP Id:
rs1471023345
gnomAD v2:
14-23889344-TCTC-T
gnomAD v4:
14-23420135-TCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23420140_23420142del , CM000676.2:g.23420140_23420142del | GRCh38 |
| NC_000014.8:g.23889349_23889351del , CM000676.1:g.23889349_23889351del | GRCh37 |
| NC_000014.7:g.22959189_22959191del | NCBI36 |
| NG_007884.1:g.20524_20526del , LRG_384:g.20524_20526del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3433_3435del MANE Select | ENSP00000347507.3:p.Glu1145del | |
| ENST00000355349.3:c.3433_3435del | ENSP00000347507.3:p.Glu1145del | |
| NM_000257.3:c.3433_3435del | NP_000248.2:p.Glu1145del | |
| XM_017021340.1:c.3433_3435del | XP_016876829.1:p.Glu1145del | |
| NM_000257.4:c.3433_3435del MANE Select | NP_000248.2:p.Glu1145del |