Linked Data
dbSNP Id:
rs930111532
gnomAD v2:
22-19952867-A-AAT
gnomAD v3:
22-19965344-A-AAT
gnomAD v4:
22-19965344-A-AAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19965357_19965358dup , CM000684.2:g.19965357_19965358dup | GRCh38 |
| NC_000022.10:g.19952880_19952881dup , CM000684.1:g.19952880_19952881dup | GRCh37 |
| NC_000022.9:g.18332880_18332881dup | NCBI36 |
| NG_011526.1:g.28618_28619dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361682.11:c.615+1058_615+1059dup MANE Select | ENSP00000354511.6:n.615+1058_615+1059dup | |
| ENST00000428707.2:c.615+1058_615+1059dup | ENSP00000387695.2:n.615+1058_615+1059dup | |
| ENST00000676678.1:c.615+1058_615+1059dup | ENSP00000503719.1:n.615+1058_615+1059dup | |
| ENST00000677397.1:c.465+1058_465+1059dup | ENSP00000503422.1:n.465+1058_465+1059dup | |
| ENST00000677470.1:n.465+1058_465+1059dup | ||
| ENST00000677564.1:n.398+1058_398+1059dup | ||
| ENST00000677675.1:n.415+1058_415+1059dup | ||
| ENST00000678255.1:c.615+1058_615+1059dup | ENSP00000504402.1:n.615+1058_615+1059dup | |
| ENST00000678769.1:c.615+1058_615+1059dup | ENSP00000503289.1:n.615+1058_615+1059dup | |
| ENST00000678868.1:c.615+1058_615+1059dup | ENSP00000503583.1:n.615+1058_615+1059dup | |
| ENST00000678945.1:n.483+1058_483+1059dup | ||
| ENST00000207636.9:c.*73+1058_*73+1059dup | ENSP00000207636.5:n.*73+1058_*73+1059dup | |
| ENST00000361682.10:c.615+1058_615+1059dup | ENSP00000354511.6:n.615+1058_615+1059dup | |
| ENST00000403184.5:c.*965_*966dup | ENSP00000383966.1:n.*965_*966dup | |
| ENST00000403710.5:c.615+1058_615+1059dup | ENSP00000385917.1:n.615+1058_615+1059dup | |
| ENST00000406520.7:c.615+1058_615+1059dup | ENSP00000385150.3:n.615+1058_615+1059dup | |
| ENST00000407537.5:c.615+1058_615+1059dup | ENSP00000384654.2:n.615+1058_615+1059dup | |
| ENST00000412786.5:c.615+1058_615+1059dup | ENSP00000403958.1:n.615+1058_615+1059dup | |
| ENST00000428707.1:c.193+1058_193+1059dup | ||
| ENST00000449653.5:c.465+1058_465+1059dup | ENSP00000416778.1:n.465+1058_465+1059dup | |
| NM_000754.3:c.615+1058_615+1059dup | NP_000745.1:n.615+1058_615+1059dup | |
| NM_001135161.1:c.615+1058_615+1059dup | NP_001128633.1:n.615+1058_615+1059dup | |
| NM_001135162.1:c.615+1058_615+1059dup | NP_001128634.1:n.615+1058_615+1059dup | |
| NM_007310.2:c.465+1058_465+1059dup | NP_009294.1:n.465+1058_465+1059dup | |
| XM_011529885.1:c.729+1058_729+1059dup | XP_011528187.1:n.729+1058_729+1059dup | |
| XM_011529886.1:c.729+1058_729+1059dup | XP_011528188.1:n.729+1058_729+1059dup | |
| XM_011529887.1:c.615+1058_615+1059dup | XP_011528189.1:n.615+1058_615+1059dup | |
| XM_011529888.1:c.615+1058_615+1059dup | XP_011528190.1:n.615+1058_615+1059dup | |
| XM_011529889.1:c.615+1058_615+1059dup | XP_011528191.1:n.615+1058_615+1059dup | |
| XM_011529890.1:c.615+1058_615+1059dup | XP_011528192.1:n.615+1058_615+1059dup | |
| XM_011529891.1:c.615+1058_615+1059dup | XP_011528193.1:n.615+1058_615+1059dup | |
| NM_001362828.1:c.615+1058_615+1059dup | NP_001349757.1:n.615+1058_615+1059dup | |
| XM_011529886.2:c.1026+1058_1026+1059dup | XP_011528188.2:n.1026+1058_1026+1059dup | |
| XM_017028595.1:c.615+1058_615+1059dup | XP_016884084.1:n.615+1058_615+1059dup | |
| NM_000754.4:c.615+1058_615+1059dup MANE Select | NP_000745.1:n.615+1058_615+1059dup | |
| NM_001135161.2:c.615+1058_615+1059dup | NP_001128633.1:n.615+1058_615+1059dup | |
| NM_001135162.2:c.615+1058_615+1059dup | NP_001128634.1:n.615+1058_615+1059dup | |
| NM_001362828.2:c.615+1058_615+1059dup | NP_001349757.1:n.615+1058_615+1059dup | |
| NM_007310.3:c.465+1058_465+1059dup | NP_009294.1:n.465+1058_465+1059dup |