Linked Data
ClinVar Variation Id:
1681556
ClinVar RCV Id:
RCV002239101
dbSNP Id:
rs1945597817
gnomAD v3:
11-94435917-CAACA-C
gnomAD v4:
11-94435917-CAACA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94435922_94435925del , CM000673.2:g.94435922_94435925del | GRCh38 |
| NC_000011.9:g.94169088_94169091del , CM000673.1:g.94169088_94169091del | GRCh37 |
| NC_000011.8:g.93808736_93808739del | NCBI36 |
| NG_007261.1:g.62954_62957del , LRG_85:g.62954_62957del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323929.8:c.1927-22_1927-19del MANE Select | ENSP00000325863.4:n.1927-22_1927-19del | |
| ENST00000323929.7:c.1927-22_1927-19del | ENSP00000325863.3:n.1927-22_1927-19del | |
| ENST00000323977.7:c.1843-22_1843-19del | ENSP00000326094.3:n.1843-22_1843-19del | |
| ENST00000393241.8:c.1924-22_1924-19del | ENSP00000376933.4:n.1924-22_1924-19del | |
| ENST00000407439.7:c.1936-22_1936-19del | ENSP00000385614.3:n.1936-22_1936-19del | |
| NM_005590.3:c.1843-22_1843-19del | NP_005581.2:n.1843-22_1843-19del | |
| NM_005591.3:c.1927-22_1927-19del , LRG_85t1:c.1927-22_1927-19del | NP_005582.1:n.1927-22_1927-19del | |
| XM_005274008.2:c.1459-22_1459-19del | XP_005274065.1:n.1459-22_1459-19del | |
| XM_006718842.2:c.1924-22_1924-19del | XP_006718905.1:n.1924-22_1924-19del | |
| XM_011542837.1:c.1927-22_1927-19del | XP_011541139.1:n.1927-22_1927-19del | |
| XR_947828.1:n.2223-22_2223-19del | ||
| NM_001330347.1:c.1924-22_1924-19del | NP_001317276.1:n.1924-22_1924-19del | |
| XM_005274008.3:c.1459-22_1459-19del | XP_005274065.1:n.1459-22_1459-19del | |
| XM_006718842.3:c.1924-22_1924-19del | XP_006718905.1:n.1924-22_1924-19del | |
| XM_011542837.2:c.1927-22_1927-19del | XP_011541139.1:n.1927-22_1927-19del | |
| XM_017017772.1:c.1927-22_1927-19del | XP_016873261.1:n.1927-22_1927-19del | |
| XR_947828.2:n.2223-22_2223-19del | ||
| NM_001330347.2:c.1924-22_1924-19del | NP_001317276.1:n.1924-22_1924-19del | |
| NM_005590.4:c.1843-22_1843-19del | NP_005581.2:n.1843-22_1843-19del | |
| NM_005591.4:c.1927-22_1927-19del MANE Select | NP_005582.1:n.1927-22_1927-19del |