Linked Data
dbSNP Id:
rs368724454
gnomAD v2:
19-17954850-CTCCGTCTGCACAGGCCAT-C
gnomAD v3:
19-17844041-CTCCGTCTGCACAGGCCAT-C
gnomAD v4:
19-17844041-CTCCGTCTGCACAGGCCAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17844045_17844062del , CM000681.2:g.17844045_17844062del | GRCh38 |
| NC_000019.9:g.17954854_17954871del , CM000681.1:g.17954854_17954871del | GRCh37 |
| NC_000019.8:g.17815854_17815871del | NCBI36 |
| NG_007273.1:g.8933_8950del , LRG_77:g.8933_8950del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.185-159_185-142del | ENSP00000513006.1:n.185-159_185-142del | |
| ENST00000458235.7:c.185-159_185-142del MANE Select | ENSP00000391676.1:n.185-159_185-142del | |
| ENST00000458235.5:c.185-159_185-142del | ENSP00000391676.1:n.185-159_185-142del | |
| ENST00000526008.5:n.285-159_285-142del | ||
| ENST00000527031.5:n.275-159_275-142del | ||
| ENST00000527670.5:c.185-159_185-142del | ENSP00000432511.1:n.185-159_185-142del | |
| ENST00000528293.1:n.323+175_323+192del | ||
| ENST00000534444.1:c.185-159_185-142del | ENSP00000436421.1:n.185-159_185-142del | |
| NM_000215.3:c.185-159_185-142del , LRG_77t1:c.185-159_185-142del | NP_000206.2:n.185-159_185-142del | |
| XM_005259896.2:c.314-159_314-142del | XP_005259953.1:n.314-159_314-142del | |
| XM_006722745.2:c.185-159_185-142del | XP_006722808.1:n.185-159_185-142del | |
| XM_011527990.1:c.314-159_314-142del | XP_011526292.1:n.314-159_314-142del | |
| XM_011527991.1:c.314-159_314-142del | XP_011526293.1:n.314-159_314-142del | |
| XR_430137.2:n.324-159_324-142del | ||
| XM_005259896.3:c.314-159_314-142del | XP_005259953.1:n.314-159_314-142del | |
| XM_011527991.2:c.314-159_314-142del | XP_011526293.1:n.314-159_314-142del | |
| NM_000215.4:c.185-159_185-142del MANE Select | NP_000206.2:n.185-159_185-142del |