Linked Data
dbSNP Id:
rs1190388369
gnomAD v4:
22-42128214-G-GGGGGC
MyVariant Identifiers:
chr22:g.42128214_42128215insGGGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42128215_42128219dup , CM000684.2:g.42128215_42128219dup | GRCh38 |
| NC_000022.10:g.42524217_42524221dup , CM000684.1:g.42524217_42524221dup | GRCh37 |
| NC_000022.9:g.40854161_40854165dup | NCBI36 |
| NG_008376.3:g.6773_6777dup | |
| NG_008376.4:g.7592_7596dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.645_649dup | ENSP00000353241.6:p.Pro217ArgfsTer6 | |
| ENST00000645361.2:c.798_802dup MANE Select | ENSP00000496150.1:p.Pro268ArgfsTer6 | |
| ENST00000359033.4:c.645_649dup | ENSP00000351927.4:p.Pro217ArgfsTer6 | |
| ENST00000360124.9:c.465_469dup | ENSP00000353241.5:p.Pro157ArgfsTer6 | |
| ENST00000360608.9:c.798_802dup | ENSP00000353820.5:p.Pro268ArgfsTer6 | |
| ENST00000389970.7:c.732_736dup | ENSP00000374620.4:p.Pro246ArgfsTer6 | |
| ENST00000488442.1:n.1522_1526dup | ||
| NM_000106.5:c.798_802dup | NP_000097.3:p.Pro268ArgfsTer6 | |
| NM_001025161.2:c.645_649dup | NP_001020332.2:p.Pro217ArgfsTer6 | |
| XM_011529966.1:c.798_802dup | XP_011528268.1:p.Pro268ArgfsTer6 | |
| XM_011529967.1:c.798_802dup | XP_011528269.1:p.Pro268ArgfsTer6 | |
| XM_011529968.1:c.798_802dup | XP_011528270.1:p.Pro268ArgfsTer6 | |
| XM_011529969.1:c.654_658dup | XP_011528271.1:p.Pro220ArgfsTer6 | |
| XM_011529970.1:c.645_649dup | XP_011528272.1:p.Pro217ArgfsTer6 | |
| XM_011529971.1:c.654_658dup | XP_011528273.1:p.Pro220ArgfsTer6 | |
| XM_011529972.1:c.798_802dup | XP_011528274.1:p.Pro268ArgfsTer6 | |
| NM_000106.6:c.798_802dup MANE Select | NP_000097.3:p.Pro268ArgfsTer6 | |
| NM_001025161.3:c.645_649dup | NP_001020332.2:p.Pro217ArgfsTer6 |