Linked Data
dbSNP Id:
rs1569022339
gnomAD v2:
22-42524254-T-TAGC
gnomAD v4:
22-42128252-T-TAGC
MyVariant Identifiers:
chr22:g.42524257_42524258insAGC (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42128256_42128258dup , CM000684.2:g.42128256_42128258dup | GRCh38 |
| NC_000022.10:g.42524258_42524260dup , CM000684.1:g.42524258_42524260dup | GRCh37 |
| NC_000022.9:g.40854202_40854204dup | NCBI36 |
| NG_008376.3:g.6737_6739dup | |
| NG_008376.4:g.7556_7558dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360124.10:c.609_611dup | ENSP00000353241.6:p.Leu204_Thr205insLeu | |
| ENST00000645361.2:c.762_764dup MANE Select | ENSP00000496150.1:p.Leu255_Thr256insLeu | |
| ENST00000359033.4:c.609_611dup | ENSP00000351927.4:p.Leu204_Thr205insLeu | |
| ENST00000360124.9:c.429_431dup | ENSP00000353241.5:p.Leu144_Thr145insLeu | |
| ENST00000360608.9:c.762_764dup | ENSP00000353820.5:p.Leu255_Thr256insLeu | |
| ENST00000389970.7:c.696_698dup | ENSP00000374620.4:p.Leu233_Thr234insLeu | |
| ENST00000488442.1:n.1486_1488dup | ||
| NM_000106.5:c.762_764dup | NP_000097.3:p.Leu255_Thr256insLeu | |
| NM_001025161.2:c.609_611dup | NP_001020332.2:p.Leu204_Thr205insLeu | |
| XM_011529966.1:c.762_764dup | XP_011528268.1:p.Leu255_Thr256insLeu | |
| XM_011529967.1:c.762_764dup | XP_011528269.1:p.Leu255_Thr256insLeu | |
| XM_011529968.1:c.762_764dup | XP_011528270.1:p.Leu255_Thr256insLeu | |
| XM_011529969.1:c.618_620dup | XP_011528271.1:p.Leu207_Thr208insLeu | |
| XM_011529970.1:c.609_611dup | XP_011528272.1:p.Leu204_Thr205insLeu | |
| XM_011529971.1:c.618_620dup | XP_011528273.1:p.Leu207_Thr208insLeu | |
| XM_011529972.1:c.762_764dup | XP_011528274.1:p.Leu255_Thr256insLeu | |
| NM_000106.6:c.762_764dup MANE Select | NP_000097.3:p.Leu255_Thr256insLeu | |
| NM_001025161.3:c.609_611dup | NP_001020332.2:p.Leu204_Thr205insLeu |