Linked Data
dbSNP Id:
rs1221866937
gnomAD v2:
22-42524974-T-TCGCCTTCCCCGTCCCC
gnomAD v3:
22-42128972-T-TCGCCTTCCCCGTCCCC
gnomAD v4:
22-42128972-T-TCGCCTTCCCCGTCCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42128982_42128997dup , CM000684.2:g.42128982_42128997dup | GRCh38 |
| NC_000022.10:g.42524984_42524999dup , CM000684.1:g.42524984_42524999dup | GRCh37 |
| NC_000022.9:g.40854928_40854943dup | NCBI36 |
| NG_008376.3:g.6004_6019dup | |
| NG_008376.4:g.6823_6838dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360124.10:c.353-44_353-29dup | ENSP00000353241.6:n.353-44_353-29dup | |
| ENST00000645361.2:c.506-44_506-29dup MANE Select | ENSP00000496150.1:n.506-44_506-29dup | |
| ENST00000359033.4:c.353-44_353-29dup | ENSP00000351927.4:n.353-44_353-29dup | |
| ENST00000360124.9:c.173-44_173-29dup | ENSP00000353241.5:n.173-44_173-29dup | |
| ENST00000360608.9:c.506-44_506-29dup | ENSP00000353820.5:n.506-44_506-29dup | |
| ENST00000389970.7:c.440-44_440-29dup | ENSP00000374620.4:n.440-44_440-29dup | |
| ENST00000488442.1:n.1230-44_1230-29dup | ||
| NM_000106.5:c.506-44_506-29dup | NP_000097.3:n.506-44_506-29dup | |
| NM_001025161.2:c.353-44_353-29dup | NP_001020332.2:n.353-44_353-29dup | |
| XM_011529966.1:c.506-44_506-29dup | XP_011528268.1:n.506-44_506-29dup | |
| XM_011529967.1:c.506-44_506-29dup | XP_011528269.1:n.506-44_506-29dup | |
| XM_011529968.1:c.506-44_506-29dup | XP_011528270.1:n.506-44_506-29dup | |
| XM_011529969.1:c.363-45_363-30dup | XP_011528271.1:n.363-45_363-30dup | |
| XM_011529970.1:c.353-44_353-29dup | XP_011528272.1:n.353-44_353-29dup | |
| XM_011529971.1:c.363-45_363-30dup | XP_011528273.1:n.363-45_363-30dup | |
| XM_011529972.1:c.506-44_506-29dup | XP_011528274.1:n.506-44_506-29dup | |
| NM_000106.6:c.506-44_506-29dup MANE Select | NP_000097.3:n.506-44_506-29dup | |
| NM_001025161.3:c.353-44_353-29dup | NP_001020332.2:n.353-44_353-29dup |