Linked Data
dbSNP Id:
rs1240585827
gnomAD v2:
6-43488174-C-A
gnomAD v4:
6-43520436-C-A
MyVariant Identifiers:
chr6:g.43488174_43488176delinsACT (hg19)
chr6:g.43520436_43520438delinsACT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43520436C>A , CM000668.2:g.43520436C>A | GRCh38 |
| NC_000006.11:g.43488174C>A , CM000668.1:g.43488174C>A | GRCh37 |
| NC_000006.10:g.43596152C>A | NCBI36 |
| NG_028283.1:g.8398C>A | |
| NG_028283.3:g.15735C>A | |
| NG_051658.1:g.60640G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607635.2:c.655+9C>A | ENSP00000496683.1:n.655+9C>A | |
| ENST00000642195.1:c.655+9C>A MANE Select | ENSP00000496044.1:n.655+9C>A | |
| ENST00000643341.1:c.655+9C>A | ENSP00000496018.1:n.655+9C>A | |
| ENST00000643799.1:c.655+9C>A | ENSP00000494529.1:n.655+9C>A | |
| ENST00000645141.1:c.*266+9C>A | ENSP00000496755.1:n.*266+9C>A | |
| ENST00000646188.1:c.490+9C>A | ENSP00000496001.1:n.490+9C>A | |
| ENST00000646433.1:c.655+9C>A | ENSP00000494368.1:n.655+9C>A | |
| ENST00000646700.1:c.655+9C>A | ENSP00000495521.1:n.655+9C>A | |
| ENST00000304004.7:c.655+9C>A | ENSP00000307212.3:n.655+9C>A | |
| ENST00000372344.6:c.655+9C>A | ENSP00000361419.2:n.655+9C>A | |
| ENST00000372389.7:c.655+9C>A | ENSP00000361465.3:n.655+9C>A | |
| ENST00000455605.2:n.957C>A | ||
| ENST00000481352.6:n.1027+9C>A | ||
| ENST00000488601.6:n.894+9C>A | ||
| NM_203290.2:c.655+9C>A | NP_976035.1:n.655+9C>A | |
| XM_005249491.1:c.655+9C>A | XP_005249548.1:n.655+9C>A | |
| XM_011515000.1:c.655+9C>A | XP_011513302.1:n.655+9C>A | |
| NM_001318876.1:c.655+9C>A | NP_001305805.1:n.655+9C>A | |
| NM_001363658.1:c.655+9C>A | NP_001350587.1:n.655+9C>A | |
| NM_203290.3:c.655+9C>A | NP_976035.1:n.655+9C>A | |
| NM_203290.4:c.655+9C>A MANE Select | NP_976035.1:n.655+9C>A | |
| NM_001363658.2:c.655+9C>A | NP_001350587.1:n.655+9C>A | |
| NM_001318876.2:c.655+9C>A | NP_001305805.1:n.655+9C>A |