Linked Data
dbSNP Id:
rs763222571
gnomAD v2:
1-65298735-A-AATC
gnomAD v3:
1-64833052-A-AATC
gnomAD v4:
1-64833052-A-AATC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.64833054_64833056dup , CM000663.2:g.64833054_64833056dup | GRCh38 |
| NC_000001.10:g.65298737_65298739dup , CM000663.1:g.65298737_65298739dup | GRCh37 |
| NC_000001.9:g.65071325_65071327dup | NCBI36 |
| NG_023402.1:g.138450_138452dup | |
| NG_023402.2:g.239692_239694dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294428.8:c.*2069_*2071dup MANE Select | ENSP00000294428.3:n.*2069_*2071dup | |
| ENST00000294428.7:c.*2069_*2071dup | ENSP00000294428.3:n.*2069_*2071dup | |
| ENST00000371072.8:c.*2069_*2071dup | ENSP00000360112.4:n.*2069_*2071dup | |
| NM_018211.3:c.*2069_*2071dup | NP_060681.2:n.*2069_*2071dup | |
| XM_006710738.2:c.*2069_*2071dup | XP_006710801.2:n.*2069_*2071dup | |
| NM_001366165.1:c.*2069_*2071dup | NP_001353094.1:n.*2069_*2071dup | |
| XR_946693.3:n.4488_4490dup | ||
| NM_018211.4:c.*2069_*2071dup | NP_060681.2:n.*2069_*2071dup | |
| NM_001366165.2:c.*2069_*2071dup MANE Select | NP_001353094.1:n.*2069_*2071dup |