Linked Data
dbSNP Id:
rs545279358
ExAC:
1:117690255 C / CATGCT
gnomAD v2:
1-117690255-C-CATGCT
gnomAD v3:
1-117147633-C-CATGCT
gnomAD v4:
1-117147633-C-CATGCT
MyVariant Identifiers:
chr1:g.117690255_117690256insATGCT (hg19)
chr1:g.117147633_117147634insATGCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.117147634_117147638dup , CM000663.2:g.117147634_117147638dup | GRCh38 |
| NC_000001.10:g.117690256_117690260dup , CM000663.1:g.117690256_117690260dup | GRCh37 |
| NC_000001.9:g.117491779_117491783dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369458.8:c.*20_*24dup MANE Select | ENSP00000358470.3:n.*20_*24dup | |
| ENST00000328189.7:c.*20_*24dup | ENSP00000328168.3:n.*20_*24dup | |
| ENST00000359008.8:c.*20_*24dup | ENSP00000351899.4:n.*20_*24dup | |
| ENST00000369458.7:c.*20_*24dup | ENSP00000358470.3:n.*20_*24dup | |
| ENST00000539893.5:c.*20_*24dup | ENSP00000444724.1:n.*20_*24dup | |
| NM_001253849.1:c.*20_*24dup | NP_001240778.1:n.*20_*24dup | |
| NM_001253850.1:c.*20_*24dup | NP_001240779.1:n.*20_*24dup | |
| NM_024626.3:c.*20_*24dup | NP_078902.2:n.*20_*24dup | |
| NR_045603.1:n.1064_1068dup | ||
| NR_045604.1:n.768_772dup | ||
| XM_011542143.1:c.*20_*24dup | XP_011540445.1:n.*20_*24dup | |
| XM_011542144.1:c.*20_*24dup | XP_011540446.1:n.*20_*24dup | |
| XM_011542145.1:c.*20_*24dup | XP_011540447.1:n.*20_*24dup | |
| XM_011542143.2:c.*20_*24dup | XP_011540445.2:n.*20_*24dup | |
| XM_017002335.2:c.*20_*24dup | XP_016857824.1:n.*20_*24dup | |
| NM_024626.4:c.*20_*24dup MANE Select | NP_078902.2:n.*20_*24dup | |
| NR_045603.2:n.1031_1035dup | ||
| NR_045604.2:n.735_739dup | ||
| NM_001253849.2:c.*20_*24dup | NP_001240778.1:n.*20_*24dup | |
| NM_001253850.2:c.*20_*24dup | NP_001240779.1:n.*20_*24dup |