Linked Data
dbSNP Id:
rs57301725
gnomAD v3:
5-148994600-A-ATGGTTGGTTGGT
gnomAD v4:
5-148994600-A-ATGGTTGGTTGGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148994650_148994661dup , CM000667.2:g.148994650_148994661dup | GRCh38 |
| NC_000005.9:g.148374213_148374224dup , CM000667.1:g.148374213_148374224dup | GRCh37 |
| NC_000005.8:g.148354406_148354417dup | NCBI36 |
| NG_007947.2:g.73563_73574dup , LRG_269:g.73563_73574dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000515425.6:c.*10099_*10110dup MANE Select | ENSP00000423660.1:n.*10099_*10110dup | |
| ENST00000504690.5:c.*12+9114_*12+9125dup | ENSP00000425627.1:n.*12+9114_*12+9125dup | |
| ENST00000510350.1:n.231+12269_231+12280dup | ||
| NM_024577.3:c.*10099_*10110dup , LRG_269t1:c.*10099_*10110dup | NP_078853.2:n.*10099_*10110dup | |
| NM_024577.4:c.*10099_*10110dup MANE Select | NP_078853.2:n.*10099_*10110dup |