Linked Data
dbSNP Id:
rs1855806036
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69647980_69647988del , CM000673.2:g.69647980_69647988del | GRCh38 |
| NC_000011.9:g.69462748_69462756del , CM000673.1:g.69462748_69462756del | GRCh37 |
| NC_000011.8:g.69171929_69171937del | NCBI36 |
| NG_007375.1:g.11876_11884del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.575-14_575-6del MANE Select | ENSP00000227507.2:n.575-14_575-6del | |
| ENST00000227507.2:c.575-14_575-6del | ENSP00000227507.2:n.575-14_575-6del | |
| ENST00000536559.1:c.199-14_199-6del | ENSP00000438482.1:n.199-14_199-6del | |
| ENST00000542367.1:n.24_32del | ||
| ENST00000545484.1:n.281-14_281-6del | ||
| NM_053056.2:c.575-14_575-6del | NP_444284.1:n.575-14_575-6del | |
| XM_006718653.2:c.599-14_599-6del | XP_006718716.1:n.599-14_599-6del | |
| NM_053056.3:c.575-14_575-6del MANE Select | NP_444284.1:n.575-14_575-6del |