Linked Data
dbSNP Id:
rs1752454702
gnomAD v3:
5-135031725-C-CGGAGCT
gnomAD v4:
5-135031725-C-CGGAGCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135031731_135031736dup , CM000667.2:g.135031731_135031736dup | GRCh38 |
| NC_000005.9:g.134367421_134367426dup , CM000667.1:g.134367421_134367426dup | GRCh37 |
| NC_000005.8:g.134395320_134395325dup | NCBI36 |
| NG_012114.1:g.7544_7549dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.170-223_170-218dup MANE Select | ENSP00000265340.6:n.170-223_170-218dup | |
| ENST00000265340.11:c.170-223_170-218dup | ENSP00000265340.6:n.170-223_170-218dup | |
| ENST00000502676.1:c.170-223_170-218dup | ENSP00000423624.1:n.170-223_170-218dup | |
| ENST00000503586.1:c.292-223_292-218dup | ||
| ENST00000504936.1:n.280_285dup | ||
| ENST00000506438.5:c.170-223_170-218dup | ENSP00000427542.1:n.170-223_170-218dup | |
| ENST00000507253.5:c.170-223_170-218dup | ENSP00000422908.1:n.170-223_170-218dup | |
| NM_002653.4:c.170-223_170-218dup | NP_002644.4:n.170-223_170-218dup | |
| NM_002653.5:c.170-223_170-218dup MANE Select | NP_002644.4:n.170-223_170-218dup |