Linked Data
dbSNP Id:
rs60733320
gnomAD v2:
19-39077895-A-AATATAT
gnomAD v3:
19-38587255-A-AATATAT
gnomAD v4:
19-38587255-A-AATATAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38587266_38587271dup , CM000681.2:g.38587266_38587271dup | GRCh38 |
| NC_000019.9:g.39077906_39077911dup , CM000681.1:g.39077906_39077911dup | GRCh37 |
| NC_000019.8:g.43769746_43769751dup | NCBI36 |
| NG_008866.1:g.158567_158572dup , LRG_766:g.158567_158572dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000593677.2:c.1957+690_1957+695dup | ||
| ENST00000688602.1:c.3355-59_3355-54dup | ||
| ENST00000689936.1:c.3327-59_3327-54dup | ||
| ENST00000692547.1:n.415-59_415-54dup | ||
| ENST00000359596.8:c.15022-59_15022-54dup MANE Select | ENSP00000352608.2:n.15022-59_15022-54dup | |
| ENST00000355481.8:c.15007-59_15007-54dup | ENSP00000347667.3:n.15007-59_15007-54dup | |
| ENST00000359596.7:c.15022-59_15022-54dup | ENSP00000352608.2:n.15022-59_15022-54dup | |
| ENST00000360985.7:c.15004-59_15004-54dup | ENSP00000354254.4:n.15004-59_15004-54dup | |
| NM_000540.2:c.15022-59_15022-54dup , LRG_766t1:c.15022-59_15022-54dup | NP_000531.2:n.15022-59_15022-54dup | |
| NM_001042723.1:c.15007-59_15007-54dup | NP_001036188.1:n.15007-59_15007-54dup | |
| XM_006723317.1:c.15004-59_15004-54dup | XP_006723380.1:n.15004-59_15004-54dup | |
| XM_006723319.1:c.14989-59_14989-54dup | XP_006723382.1:n.14989-59_14989-54dup | |
| XM_011527204.1:c.15019-59_15019-54dup | XP_011525506.1:n.15019-59_15019-54dup | |
| XM_011527205.1:c.14935-59_14935-54dup | XP_011525507.1:n.14935-59_14935-54dup | |
| XM_006723317.2:c.15004-59_15004-54dup | XP_006723380.1:n.15004-59_15004-54dup | |
| XM_006723319.2:c.14989-59_14989-54dup | XP_006723382.1:n.14989-59_14989-54dup | |
| XM_011527205.2:c.14935-59_14935-54dup | XP_011525507.1:n.14935-59_14935-54dup | |
| NM_000540.3:c.15022-59_15022-54dup MANE Select | NP_000531.2:n.15022-59_15022-54dup | |
| NM_001042723.2:c.15007-59_15007-54dup | NP_001036188.1:n.15007-59_15007-54dup |