Linked Data
dbSNP Id:
rs539170444
gnomAD v2:
1-201286468-C-CAGCTAGGATATGGG
gnomAD v3:
1-201317340-C-CAGCTAGGATATGGG
gnomAD v4:
1-201317340-C-CAGCTAGGATATGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201317364_201317377dup , CM000663.2:g.201317364_201317377dup | GRCh38 |
| NC_000001.10:g.201286492_201286505dup , CM000663.1:g.201286492_201286505dup | GRCh37 |
| NC_000001.9:g.199553115_199553128dup | NCBI36 |
| NG_023337.1:g.38913_38926dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367324.8:c.847-208_847-195dup MANE Select | ENSP00000356293.4:n.847-208_847-195dup | |
| ENST00000263946.7:c.847-208_847-195dup | ENSP00000263946.3:n.847-208_847-195dup | |
| ENST00000352845.3:c.847-208_847-195dup | ENSP00000295597.3:n.847-208_847-195dup | |
| ENST00000367324.7:c.847-208_847-195dup | ENSP00000356293.3:n.847-208_847-195dup | |
| ENST00000475988.1:n.189-208_189-195dup | ||
| ENST00000622031.4:c.844-208_844-195dup | ENSP00000482213.1:n.844-208_844-195dup | |
| NM_000299.3:c.847-208_847-195dup | NP_000290.2:n.847-208_847-195dup | |
| NM_001005337.2:c.847-208_847-195dup | NP_001005337.1:n.847-208_847-195dup | |
| NM_001005337.3:c.847-208_847-195dup MANE Select | NP_001005337.1:n.847-208_847-195dup | |
| NM_000299.4:c.847-208_847-195dup | NP_000290.2:n.847-208_847-195dup |