Linked Data
ClinVar Variation Id:
2783618
ClinVar RCV Id:
RCV003649522
dbSNP Id:
rs1565148599
gnomAD v2:
11-65978587-CTG-C
gnomAD v4:
11-66211116-CTG-C
MyVariant Identifiers:
chr11:g.65978588_65978589del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66211118_66211119del , CM000673.2:g.66211118_66211119del | GRCh38 |
| NC_000011.9:g.65978589_65978590del , CM000673.1:g.65978589_65978590del | GRCh37 |
| NC_000011.8:g.65735165_65735166del | NCBI36 |
| NG_033900.1:g.145766_145767del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320580.9:c.535-16_535-15del MANE Select | ENSP00000316454.4:n.535-16_535-15del | |
| ENST00000320580.8:c.535-16_535-15del | ENSP00000316454.4:n.535-16_535-15del | |
| ENST00000527224.1:n.659-16_659-15del | ||
| ENST00000527380.1:c.241-16_241-15del | ENSP00000432639.1:n.241-16_241-15del | |
| ENST00000533756.5:c.226-16_226-15del | ENSP00000437150.1:n.226-16_226-15del | |
| NM_018026.3:c.535-16_535-15del | NP_060496.2:n.535-16_535-15del | |
| XM_011545162.1:c.214-16_214-15del | XP_011543464.1:n.214-16_214-15del | |
| XM_011545163.1:c.205-16_205-15del | XP_011543465.1:n.205-16_205-15del | |
| XM_011545164.1:c.196-16_196-15del | XP_011543466.1:n.196-16_196-15del | |
| XM_011545164.2:c.196-16_196-15del | XP_011543466.1:n.196-16_196-15del | |
| XR_001747924.1:n.746-16_746-15del | ||
| NM_018026.4:c.535-16_535-15del MANE Select | NP_060496.2:n.535-16_535-15del |