Linked Data
dbSNP Id:
rs757222003
gnomAD v2:
22-29092997-A-ACCCTCAGATTCATGCAGTAGATACTT
gnomAD v4:
22-28697009-A-ACCCTCAGATTCATGCAGTAGATACTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28697010_28697035dup , CM000684.2:g.28697010_28697035dup | GRCh38 |
| NC_000022.10:g.29092998_29093023dup , CM000684.1:g.29092998_29093023dup | GRCh37 |
| NC_000022.9:g.27422998_27423023dup | NCBI36 |
| NG_008150.1:g.49800_49825dup | |
| NG_008150.2:g.49832_49857dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.1009-1793_1009-1768dup | ENSP00000518557.1:n.1009-1793_1009-1768dup | |
| ENST00000402731.6:c.808-48_808-23dup | ENSP00000384835.2:n.808-48_808-23dup | |
| ENST00000404276.6:c.1009-48_1009-23dup MANE Select | ENSP00000385747.1:n.1009-48_1009-23dup | |
| ENST00000425190.7:c.346-48_346-23dup | ENSP00000390244.2:n.346-48_346-23dup | |
| ENST00000464581.6:c.349-48_349-23dup | ENSP00000483777.2:n.349-48_349-23dup | |
| ENST00000648295.1:n.561-48_561-23dup | ||
| ENST00000649563.1:c.346-48_346-23dup | ENSP00000496928.1:n.346-48_346-23dup | |
| ENST00000650281.1:c.1009-48_1009-23dup | ENSP00000497000.1:n.1009-48_1009-23dup | |
| ENST00000328354.10:c.1009-48_1009-23dup | ENSP00000329178.6:n.1009-48_1009-23dup | |
| ENST00000348295.7:c.1009-1162_1009-1137dup | ENSP00000329012.5:n.1009-1162_1009-1137dup | |
| ENST00000382580.6:c.1138-48_1138-23dup | ENSP00000372023.2:n.1138-48_1138-23dup | |
| ENST00000402731.5:c.1009-1162_1009-1137dup | ENSP00000384835.1:n.1009-1162_1009-1137dup | |
| ENST00000403642.5:c.736-48_736-23dup | ENSP00000384919.1:n.736-48_736-23dup | |
| ENST00000404276.5:c.1009-48_1009-23dup | ENSP00000385747.1:n.1009-48_1009-23dup | |
| ENST00000405598.5:c.1009-48_1009-23dup | ENSP00000386087.1:n.1009-48_1009-23dup | |
| ENST00000416671.5:c.*499-48_*499-23dup | ENSP00000402225.1:n.*499-48_*499-23dup | |
| ENST00000417588.5:c.918-48_918-23dup | ENSP00000412901.1:n.918-48_918-23dup | |
| ENST00000425190.6:c.346-48_346-23dup | ENSP00000390244.1:n.346-48_346-23dup | |
| ENST00000433028.6:c.*734-48_*734-23dup | ENSP00000403659.1:n.*734-48_*734-23dup | |
| ENST00000433728.5:c.947-48_947-23dup | ENSP00000404400.1:n.947-48_947-23dup | |
| ENST00000434810.5:c.240-48_240-23dup | ||
| ENST00000447421.5:c.808-48_808-23dup | ENSP00000397478.2:n.808-48_808-23dup | |
| ENST00000448511.5:c.899-48_899-23dup | ENSP00000404567.1:n.899-48_899-23dup | |
| ENST00000456369.5:c.263+2803_263+2828dup | ||
| ENST00000464581.5:c.349-48_349-23dup | ENSP00000483777.1:n.349-48_349-23dup | |
| ENST00000491919.5:n.566-48_566-23dup | ||
| NM_001005735.1:c.1138-48_1138-23dup | NP_001005735.1:n.1138-48_1138-23dup | |
| NM_001257387.1:c.346-48_346-23dup | NP_001244316.1:n.346-48_346-23dup | |
| NM_007194.3:c.1009-48_1009-23dup | NP_009125.1:n.1009-48_1009-23dup | |
| NM_145862.2:c.1009-1162_1009-1137dup | NP_665861.1:n.1009-1162_1009-1137dup | |
| XM_006724114.2:c.529-48_529-23dup | XP_006724177.1:n.529-48_529-23dup | |
| XM_006724116.2:c.466-48_466-23dup | XP_006724179.2:n.466-48_466-23dup | |
| XM_011529839.1:c.1168-48_1168-23dup | XP_011528141.1:n.1168-48_1168-23dup | |
| XM_011529840.1:c.1168-1162_1168-1137dup | XP_011528142.1:n.1168-1162_1168-1137dup | |
| XM_011529841.1:c.937-48_937-23dup | XP_011528143.1:n.937-48_937-23dup | |
| XM_011529842.1:c.838-48_838-23dup | XP_011528144.1:n.838-48_838-23dup | |
| XM_011529843.1:c.808-48_808-23dup | XP_011528145.1:n.808-48_808-23dup | |
| XM_011529844.1:c.*32_*57dup | XP_011528146.1:n.*32_*57dup | |
| XM_011529845.1:c.346-48_346-23dup | XP_011528147.1:n.346-48_346-23dup | |
| XR_937805.1:n.1168-48_1168-23dup | ||
| XR_937806.1:n.1163-1162_1163-1137dup | ||
| NM_001349956.1:c.808-48_808-23dup | NP_001336885.1:n.808-48_808-23dup | |
| NM_007194.4:c.1009-48_1009-23dup MANE Select | NP_009125.1:n.1009-48_1009-23dup | |
| XM_006724114.3:c.562-48_562-23dup | XP_006724177.2:n.562-48_562-23dup | |
| XM_011529839.2:c.1168-48_1168-23dup | XP_011528141.1:n.1168-48_1168-23dup | |
| XM_011529840.3:c.1168-1162_1168-1137dup | XP_011528142.1:n.1168-1162_1168-1137dup | |
| XM_011529842.2:c.838-48_838-23dup | XP_011528144.1:n.838-48_838-23dup | |
| XM_011529844.2:c.*32_*57dup | XP_011528146.1:n.*32_*57dup | |
| XM_011529845.2:c.346-48_346-23dup | XP_011528147.1:n.346-48_346-23dup | |
| XM_017028560.1:c.1132-48_1132-23dup | XP_016884049.1:n.1132-48_1132-23dup | |
| XM_017028561.2:c.346-48_346-23dup | XP_016884050.1:n.346-48_346-23dup | |
| XM_024452148.1:c.1039-48_1039-23dup | XP_024307916.1:n.1039-48_1039-23dup | |
| XM_024452149.1:c.1039-1162_1039-1137dup | XP_024307917.1:n.1039-1162_1039-1137dup | |
| XR_937805.2:n.1179-48_1179-23dup | ||
| XR_937806.2:n.1179-1162_1179-1137dup | ||
| NM_001005735.2:c.1138-48_1138-23dup | NP_001005735.1:n.1138-48_1138-23dup | |
| NM_001257387.2:c.346-48_346-23dup | NP_001244316.1:n.346-48_346-23dup | |
| NM_001349956.2:c.808-48_808-23dup | NP_001336885.1:n.808-48_808-23dup |