Linked Data
dbSNP Id:
rs758925577
ExAC:
21:45706426 C / CCA
gnomAD v2:
21-45706426-C-CCA
gnomAD v4:
21-44286543-C-CCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44286545_44286546dup , CM000683.2:g.44286545_44286546dup | GRCh38 |
| NC_000021.8:g.45706428_45706429dup , CM000683.1:g.45706428_45706429dup | GRCh37 |
| NC_000021.7:g.44530856_44530857dup | NCBI36 |
| NG_009556.1:g.5666_5667dup , LRG_18:g.5666_5667dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.133-12_133-11dup MANE Select | ENSP00000291582.5:n.133-12_133-11dup | |
| ENST00000291582.5:c.133-12_133-11dup | ENSP00000291582.5:n.133-12_133-11dup | |
| ENST00000527919.5:n.294-12_294-11dup | ||
| ENST00000530812.5:n.302-12_302-11dup | ||
| NM_000383.3:c.133-12_133-11dup | NP_000374.1:n.133-12_133-11dup | |
| XM_011529551.1:c.133-12_133-11dup | XP_011527853.1:n.133-12_133-11dup | |
| NM_000383.4:c.133-12_133-11dup MANE Select | NP_000374.1:n.133-12_133-11dup |