Linked Data
ClinVar Variation Id:
1800157
ClinVar RCV Id:
RCV002460805
dbSNP Id:
rs1565220178
gnomAD v2:
11-94192569-CT-C
gnomAD v4:
11-94459403-CT-C
MyVariant Identifiers:
chr11:g.94192570del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94459405del , CM000673.2:g.94459405del | GRCh38 |
| NC_000011.9:g.94192571del , CM000673.1:g.94192571del | GRCh37 |
| NC_000011.8:g.93832219del | NCBI36 |
| NG_007261.1:g.39471del , LRG_85:g.39471del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323929.8:c.1500+4del MANE Select | ENSP00000325863.4:n.1500+4del | |
| ENST00000323929.7:c.1500+4del | ENSP00000325863.3:n.1500+4del | |
| ENST00000323977.7:c.1500+4del | ENSP00000326094.3:n.1500+4del | |
| ENST00000393241.8:c.1500+4del | ENSP00000376933.4:n.1500+4del | |
| ENST00000407439.7:c.1509+4del | ENSP00000385614.3:n.1509+4del | |
| NM_005590.3:c.1500+4del | NP_005581.2:n.1500+4del | |
| NM_005591.3:c.1500+4del , LRG_85t1:c.1500+4del | NP_005582.1:n.1500+4del | |
| XM_005274008.2:c.1032+4del | XP_005274065.1:n.1032+4del | |
| XM_006718842.2:c.1500+4del | XP_006718905.1:n.1500+4del | |
| XM_011542837.1:c.1500+4del | XP_011541139.1:n.1500+4del | |
| XR_947828.1:n.1796+4del | ||
| NM_001330347.1:c.1500+4del | NP_001317276.1:n.1500+4del | |
| XM_005274008.3:c.1032+4del | XP_005274065.1:n.1032+4del | |
| XM_006718842.3:c.1500+4del | XP_006718905.1:n.1500+4del | |
| XM_011542837.2:c.1500+4del | XP_011541139.1:n.1500+4del | |
| XM_017017772.1:c.1500+4del | XP_016873261.1:n.1500+4del | |
| XR_947828.2:n.1796+4del | ||
| NM_001330347.2:c.1500+4del | NP_001317276.1:n.1500+4del | |
| NM_005590.4:c.1500+4del | NP_005581.2:n.1500+4del | |
| NM_005591.4:c.1500+4del MANE Select | NP_005582.1:n.1500+4del |