Linked Data
ClinVar Variation Id:
2176313
ClinVar RCV Id:
RCV002582323
dbSNP Id:
rs1173228408
gnomAD v2:
11-94169080-A-AT
gnomAD v3:
11-94435914-A-AT
gnomAD v4:
11-94435914-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94435914_94435915insT , CM000673.2:g.94435914_94435915insT | GRCh38 |
| NC_000011.9:g.94169080_94169081insT , CM000673.1:g.94169080_94169081insT | GRCh37 |
| NC_000011.8:g.93808728_93808729insT | NCBI36 |
| NG_007261.1:g.62960_62961insA , LRG_85:g.62960_62961insA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323929.8:c.1927-16_1927-15insA MANE Select | ENSP00000325863.4:n.1927-16_1927-15insA | |
| ENST00000323929.7:c.1927-16_1927-15insA | ENSP00000325863.3:n.1927-16_1927-15insA | |
| ENST00000323977.7:c.1843-16_1843-15insA | ENSP00000326094.3:n.1843-16_1843-15insA | |
| ENST00000393241.8:c.1924-16_1924-15insA | ENSP00000376933.4:n.1924-16_1924-15insA | |
| ENST00000407439.7:c.1936-16_1936-15insA | ENSP00000385614.3:n.1936-16_1936-15insA | |
| NM_005590.3:c.1843-16_1843-15insA | NP_005581.2:n.1843-16_1843-15insA | |
| NM_005591.3:c.1927-16_1927-15insA , LRG_85t1:c.1927-16_1927-15insA | NP_005582.1:n.1927-16_1927-15insA | |
| XM_005274008.2:c.1459-16_1459-15insA | XP_005274065.1:n.1459-16_1459-15insA | |
| XM_006718842.2:c.1924-16_1924-15insA | XP_006718905.1:n.1924-16_1924-15insA | |
| XM_011542837.1:c.1927-16_1927-15insA | XP_011541139.1:n.1927-16_1927-15insA | |
| XR_947828.1:n.2223-16_2223-15insA | ||
| NM_001330347.1:c.1924-16_1924-15insA | NP_001317276.1:n.1924-16_1924-15insA | |
| XM_005274008.3:c.1459-16_1459-15insA | XP_005274065.1:n.1459-16_1459-15insA | |
| XM_006718842.3:c.1924-16_1924-15insA | XP_006718905.1:n.1924-16_1924-15insA | |
| XM_011542837.2:c.1927-16_1927-15insA | XP_011541139.1:n.1927-16_1927-15insA | |
| XM_017017772.1:c.1927-16_1927-15insA | XP_016873261.1:n.1927-16_1927-15insA | |
| XR_947828.2:n.2223-16_2223-15insA | ||
| NM_001330347.2:c.1924-16_1924-15insA | NP_001317276.1:n.1924-16_1924-15insA | |
| NM_005590.4:c.1843-16_1843-15insA | NP_005581.2:n.1843-16_1843-15insA | |
| NM_005591.4:c.1927-16_1927-15insA MANE Select | NP_005582.1:n.1927-16_1927-15insA |