Linked Data
ClinVar Variation Id:
555260
ClinVar RCV Id:
RCV000671049
dbSNP Id:
rs1555420647
gnomAD v3:
15-42389033-TGACATGTACAA-T
gnomAD v4:
15-42389033-TGACATGTACAA-T
MyVariant Identifiers:
chr15:g.42389036_42389046del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42389036_42389046del , CM000677.2:g.42389036_42389046del | GRCh38 |
| NC_000015.9:g.42681234_42681244del , CM000677.1:g.42681234_42681244del | GRCh37 |
| NC_000015.8:g.40468526_40468536del | NCBI36 |
| NG_008660.1:g.45934_45944del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349748.8:c.741_751del | ENSP00000183936.4:p.Met248HisfsTer16 | |
| ENST00000357568.8:c.741_751del | ENSP00000350181.3:p.Met248HisfsTer16 | |
| ENST00000397163.8:c.741_751del MANE Select | ENSP00000380349.3:p.Met248HisfsTer16 | |
| ENST00000466369.5:n.1250_1260del | ||
| ENST00000483208.5:n.972_982del | ||
| ENST00000495723.1:n.972_982del | ||
| ENST00000549793.5:n.972_982del | ||
| ENST00000638141.2:n.756_766del | ||
| ENST00000673705.1:c.70+4484_70+4494del | ENSP00000501021.1:n.70+4484_70+4494del | |
| ENST00000318023.11:c.741_751del | ENSP00000326281.8:p.Met248HisfsTer16 | |
| ENST00000349748.7:c.741_751del | ENSP00000183936.4:p.Met248HisfsTer16 | |
| ENST00000357568.7:c.741_751del | ENSP00000350181.3:p.Met248HisfsTer16 | |
| ENST00000397163.7:c.741_751del | ENSP00000380349.3:p.Met248HisfsTer16 | |
| NM_000070.2:c.741_751del | NP_000061.1:p.Met248HisfsTer16 | |
| NM_024344.1:c.741_751del | NP_077320.1:p.Met248HisfsTer16 | |
| NM_173087.1:c.741_751del | NP_775110.1:p.Met248HisfsTer16 | |
| NM_000070.3:c.741_751del MANE Select | NP_000061.1:p.Met248HisfsTer16 | |
| NM_024344.2:c.741_751del | NP_077320.1:p.Met248HisfsTer16 | |
| NM_173087.2:c.741_751del | NP_775110.1:p.Met248HisfsTer16 |