Linked Data
ClinVar Variation Id:
755043
ClinVar RCV Id:
RCV001498911
dbSNP Id:
rs1325259154
gnomAD v4:
7-103523536-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103523538dup , CM000669.2:g.103523538dup | GRCh38 |
| NC_000007.13:g.103163985dup , CM000669.1:g.103163985dup | GRCh37 |
| NC_000007.12:g.102951221dup | NCBI36 |
| NG_011877.1:g.470980dup | |
| NG_011877.2:g.470980dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.7350-6dup | ENSP00000388446.3:n.7350-6dup | |
| ENST00000428762.6:c.7350-6dup MANE Select | ENSP00000392423.1:n.7350-6dup | |
| ENST00000478148.2:n.591-6dup | ||
| ENST00000679867.1:n.7234-6dup | ||
| ENST00000679952.1:n.1278-6dup | ||
| ENST00000681034.1:c.7350-6dup | ENSP00000506075.1:n.7350-6dup | |
| ENST00000681364.1:n.599-6dup | ||
| ENST00000343529.9:c.7350-6dup | ENSP00000345694.5:n.7350-6dup | |
| ENST00000424685.2:c.7350-6dup | ENSP00000388446.2:n.7350-6dup | |
| ENST00000428762.5:c.7350-6dup | ENSP00000392423.1:n.7350-6dup | |
| ENST00000478148.1:n.581-6dup | ||
| NM_005045.3:c.7350-6dup | NP_005036.2:n.7350-6dup | |
| NM_173054.2:c.7350-6dup | NP_774959.1:n.7350-6dup | |
| NM_005045.4:c.7350-6dup MANE Select | NP_005036.2:n.7350-6dup | |
| NM_173054.3:c.7350-6dup | NP_774959.1:n.7350-6dup |