Linked Data
dbSNP Id:
rs753358854
ExAC:
21:47545562 C / CG
gnomAD v2:
21-47545562-C-CG
gnomAD v3:
21-46125648-C-CG
gnomAD v4:
21-46125648-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46125654dup , CM000683.2:g.46125654dup | GRCh38 |
| NC_000021.8:g.47545568dup , CM000683.1:g.47545568dup | GRCh37 |
| NC_000021.7:g.46369996dup | NCBI36 |
| NG_008675.1:g.32536dup , LRG_476:g.32536dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397763.6:c.1969+37dup MANE Plus Clinical | ENSP00000380870.1:n.1969+37dup | |
| ENST00000300527.9:c.1969+37dup MANE Select | ENSP00000300527.4:n.1969+37dup | |
| ENST00000409416.6:c.1969+37dup | ENSP00000387115.1:n.1969+37dup | |
| ENST00000300527.8:c.1969+37dup | ENSP00000300527.4:n.1969+37dup | |
| ENST00000310645.9:c.1969+37dup | ENSP00000312529.5:n.1969+37dup | |
| ENST00000397763.5:c.1969+37dup | ENSP00000380870.1:n.1969+37dup | |
| ENST00000409416.5:c.1969+37dup | ENSP00000387115.1:n.1969+37dup | |
| ENST00000413758.1:c.640+37dup | ENSP00000395751.1:n.640+37dup | |
| NM_001849.3:c.1969+37dup , LRG_476t1:c.1969+37dup | NP_001840.3:n.1969+37dup | |
| NM_058174.2:c.1969+37dup | NP_478054.2:n.1969+37dup | |
| NM_058175.2:c.1969+37dup | NP_478055.2:n.1969+37dup | |
| XM_011529451.1:c.1969+37dup | XP_011527753.1:n.1969+37dup | |
| XM_011529452.1:c.1969+37dup | XP_011527754.1:n.1969+37dup | |
| XR_937438.1:n.2046+37dup | ||
| XR_937439.1:n.2046+37dup | ||
| XR_937438.2:n.2053+37dup | ||
| XR_937439.2:n.2053+37dup | ||
| NM_001849.4:c.1969+37dup MANE Select | NP_001840.3:n.1969+37dup | |
| NM_058174.3:c.1969+37dup MANE Plus Clinical | NP_478054.2:n.1969+37dup | |
| NM_058175.3:c.1969+37dup | NP_478055.2:n.1969+37dup |