Linked Data
dbSNP Id:
rs1658710648
gnomAD v3:
1-204190412-CCGCCCCCCG-C
gnomAD v4:
1-204190412-CCGCCCCCCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190414_204190422del , CM000663.2:g.204190414_204190422del | GRCh38 |
| NC_000001.10:g.204159542_204159550del , CM000663.1:g.204159542_204159550del | GRCh37 |
| NC_000001.9:g.202426165_202426173del | NCBI36 |
| NG_032151.1:g.11071_11079del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*63_*71del MANE Select | ENSP00000356162.4:n.*63_*71del | |
| ENST00000367194.4:c.*63_*71del | ENSP00000356162.4:n.*63_*71del | |
| NM_002256.3:c.*63_*71del | NP_002247.3:n.*63_*71del | |
| XM_011509525.1:c.*63_*71del | XP_011507827.1:n.*63_*71del | |
| NM_002256.4:c.*63_*71del MANE Select | NP_002247.3:n.*63_*71del |