Linked Data
dbSNP Id:
rs1252658368
gnomAD v2:
1-65298699-G-GGACAT
gnomAD v3:
1-64833016-G-GGACAT
gnomAD v4:
1-64833016-G-GGACAT
MyVariant Identifiers:
chr1:g.65298699_65298700insGACAT (hg19)
chr1:g.64833016_64833017insGACAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.64833018_64833022dup , CM000663.2:g.64833018_64833022dup | GRCh38 |
| NC_000001.10:g.65298701_65298705dup , CM000663.1:g.65298701_65298705dup | GRCh37 |
| NC_000001.9:g.65071289_65071293dup | NCBI36 |
| NG_023402.1:g.138484_138488dup | |
| NG_023402.2:g.239726_239730dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294428.8:c.*2033_*2037dup MANE Select | ENSP00000294428.3:n.*2033_*2037dup | |
| ENST00000294428.7:c.*2033_*2037dup | ENSP00000294428.3:n.*2033_*2037dup | |
| ENST00000371072.8:c.*2033_*2037dup | ENSP00000360112.4:n.*2033_*2037dup | |
| NM_018211.3:c.*2033_*2037dup | NP_060681.2:n.*2033_*2037dup | |
| XM_006710738.2:c.*2033_*2037dup | XP_006710801.2:n.*2033_*2037dup | |
| NM_001366165.1:c.*2033_*2037dup | NP_001353094.1:n.*2033_*2037dup | |
| XR_946693.3:n.4452_4456dup | ||
| NM_018211.4:c.*2033_*2037dup | NP_060681.2:n.*2033_*2037dup | |
| NM_001366165.2:c.*2033_*2037dup MANE Select | NP_001353094.1:n.*2033_*2037dup |