Linked Data
dbSNP Id:
rs1553157355
gnomAD v3:
1-64833091-G-GTGTTTGTTTGTT
gnomAD v4:
1-64833091-G-GTGTTTGTTTGTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.64833096_64833107dup , CM000663.2:g.64833096_64833107dup | GRCh38 |
| NC_000001.10:g.65298779_65298790dup , CM000663.1:g.65298779_65298790dup | GRCh37 |
| NC_000001.9:g.65071367_65071378dup | NCBI36 |
| NG_023402.1:g.138402_138413dup | |
| NG_023402.2:g.239644_239655dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294428.8:c.*2111_*2122dup MANE Select | ENSP00000294428.3:n.*2111_*2122dup | |
| ENST00000294428.7:c.*2111_*2122dup | ENSP00000294428.3:n.*2111_*2122dup | |
| ENST00000371072.8:c.*2111_*2122dup | ENSP00000360112.4:n.*2111_*2122dup | |
| NM_018211.3:c.*2111_*2122dup | NP_060681.2:n.*2111_*2122dup | |
| XM_006710738.2:c.*2111_*2122dup | XP_006710801.2:n.*2111_*2122dup | |
| NM_001366165.1:c.*2111_*2122dup | NP_001353094.1:n.*2111_*2122dup | |
| XR_946693.3:n.4530_4541dup | ||
| NM_018211.4:c.*2111_*2122dup | NP_060681.2:n.*2111_*2122dup | |
| NM_001366165.2:c.*2111_*2122dup MANE Select | NP_001353094.1:n.*2111_*2122dup |