Linked Data
dbSNP Id:
rs1300676828
gnomAD v2:
10-103313651-C-CTT
gnomAD v3:
10-101553894-C-CTT
gnomAD v4:
10-101553894-C-CTT
MyVariant Identifiers:
chr10:g.103313651_103313652insTT (hg19)
chr10:g.101553894_101553895insTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.101553895_101553896dup , CM000672.2:g.101553895_101553896dup | GRCh38 |
| NC_000010.10:g.103313652_103313653dup , CM000672.1:g.103313652_103313653dup | GRCh37 |
| NC_000010.9:g.103303642_103303643dup | NCBI36 |
| NG_009234.1:g.204828_204829dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370187.8:c.*772_*773dup MANE Select | ENSP00000359206.3:n.*772_*773dup | |
| ENST00000370187.7:c.*772_*773dup | ENSP00000359206.3:n.*772_*773dup | |
| ENST00000393441.8:c.*772_*773dup | ENSP00000377088.5:n.*772_*773dup | |
| ENST00000408038.6:c.*772_*773dup | ENSP00000385339.2:n.*772_*773dup | |
| NM_001256856.1:c.*772_*773dup | NP_001243785.1:n.*772_*773dup | |
| NM_003939.4:c.*772_*773dup | NP_003930.1:n.*772_*773dup | |
| NM_033637.3:c.*772_*773dup | NP_378663.1:n.*772_*773dup | |
| XM_005270264.2:c.*772_*773dup | XP_005270321.1:n.*772_*773dup | |
| XM_006718054.2:c.*772_*773dup | XP_006718117.1:n.*772_*773dup | |
| XM_011540320.1:c.*772_*773dup | XP_011538622.1:n.*772_*773dup | |
| XM_011540320.2:c.*772_*773dup | XP_011538622.1:n.*772_*773dup | |
| XM_017016870.1:c.*772_*773dup | XP_016872359.1:n.*772_*773dup | |
| XM_017016871.1:c.*772_*773dup | XP_016872360.1:n.*772_*773dup | |
| XM_017016872.1:c.*772_*773dup | XP_016872361.1:n.*772_*773dup | |
| XM_017016873.2:c.*772_*773dup | XP_016872362.1:n.*772_*773dup | |
| XM_017016874.1:c.*772_*773dup | XP_016872363.1:n.*772_*773dup | |
| XM_024448246.1:c.*772_*773dup | XP_024304014.1:n.*772_*773dup | |
| XM_024448247.1:c.*772_*773dup | XP_024304015.1:n.*772_*773dup | |
| XR_001747256.1:n.2941_2942dup | ||
| NM_033637.4:c.*772_*773dup MANE Select | NP_378663.1:n.*772_*773dup | |
| NM_003939.5:c.*772_*773dup | NP_003930.1:n.*772_*773dup | |
| NM_001256856.2:c.*772_*773dup | NP_001243785.1:n.*772_*773dup |