Linked Data
dbSNP Id:
rs2078569689
gnomAD v3:
21-46121717-C-CGTGCCTCAGGACGGGCCT
gnomAD v4:
21-46121717-C-CGTGCCTCAGGACGGGCCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46121725_46121742dup , CM000683.2:g.46121725_46121742dup | GRCh38 |
| NC_000021.8:g.47541639_47541656dup , CM000683.1:g.47541639_47541656dup | GRCh37 |
| NC_000021.7:g.46366067_46366084dup | NCBI36 |
| NG_008675.1:g.28607_28624dup , LRG_476:g.28607_28624dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397763.6:c.1521+107_1521+124dup MANE Plus Clinical | ENSP00000380870.1:n.1521+107_1521+124dup | |
| ENST00000300527.9:c.1521+107_1521+124dup MANE Select | ENSP00000300527.4:n.1521+107_1521+124dup | |
| ENST00000409416.6:c.1521+107_1521+124dup | ENSP00000387115.1:n.1521+107_1521+124dup | |
| ENST00000300527.8:c.1521+107_1521+124dup | ENSP00000300527.4:n.1521+107_1521+124dup | |
| ENST00000310645.9:c.1521+107_1521+124dup | ENSP00000312529.5:n.1521+107_1521+124dup | |
| ENST00000397763.5:c.1521+107_1521+124dup | ENSP00000380870.1:n.1521+107_1521+124dup | |
| ENST00000409416.5:c.1521+107_1521+124dup | ENSP00000387115.1:n.1521+107_1521+124dup | |
| ENST00000413758.1:c.144+107_144+124dup | ENSP00000395751.1:n.144+107_144+124dup | |
| NM_001849.3:c.1521+107_1521+124dup , LRG_476t1:c.1521+107_1521+124dup | NP_001840.3:n.1521+107_1521+124dup | |
| NM_058174.2:c.1521+107_1521+124dup | NP_478054.2:n.1521+107_1521+124dup | |
| NM_058175.2:c.1521+107_1521+124dup | NP_478055.2:n.1521+107_1521+124dup | |
| XM_011529451.1:c.1521+107_1521+124dup | XP_011527753.1:n.1521+107_1521+124dup | |
| XM_011529452.1:c.1521+107_1521+124dup | XP_011527754.1:n.1521+107_1521+124dup | |
| XR_937438.1:n.1644+107_1644+124dup | ||
| XR_937439.1:n.1644+107_1644+124dup | ||
| XR_937438.2:n.1651+107_1651+124dup | ||
| XR_937439.2:n.1651+107_1651+124dup | ||
| NM_001849.4:c.1521+107_1521+124dup MANE Select | NP_001840.3:n.1521+107_1521+124dup | |
| NM_058174.3:c.1521+107_1521+124dup MANE Plus Clinical | NP_478054.2:n.1521+107_1521+124dup | |
| NM_058175.3:c.1521+107_1521+124dup | NP_478055.2:n.1521+107_1521+124dup |