Linked Data
dbSNP Id:
rs1443528055
gnomAD v2:
11-88033672-C-CA
gnomAD v3:
11-88300504-C-CA
gnomAD v4:
11-88300504-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.88300510dup , CM000673.2:g.88300510dup | GRCh38 |
| NC_000011.9:g.88033678dup , CM000673.1:g.88033678dup | GRCh37 |
| NC_000011.8:g.87673326dup | NCBI36 |
| NG_007952.1:g.42269dup , LRG_50:g.42269dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227266.10:c.757+25dup MANE Select | ENSP00000227266.4:n.757+25dup | |
| ENST00000527018.6:c.757+25dup | ENSP00000432556.2:n.757+25dup | |
| ENST00000533897.2:n.830dup | ||
| ENST00000676612.1:c.*564+25dup | ENSP00000504440.1:n.*564+25dup | |
| ENST00000677208.1:c.*263+25dup | ENSP00000504347.1:n.*263+25dup | |
| ENST00000677661.1:c.*434+25dup | ENSP00000503323.1:n.*434+25dup | |
| ENST00000677802.1:c.*434+25dup | ENSP00000504115.1:n.*434+25dup | |
| ENST00000678065.1:n.342dup | ||
| ENST00000678395.1:c.*263+25dup | ENSP00000503123.1:n.*263+25dup | |
| ENST00000678464.1:c.757+25dup | ENSP00000503046.1:n.757+25dup | |
| ENST00000678506.1:c.718+25dup | ENSP00000503580.1:n.718+25dup | |
| ENST00000678520.1:c.*408+25dup | ENSP00000503361.1:n.*408+25dup | |
| ENST00000678554.1:c.757+25dup | ENSP00000504541.1:n.757+25dup | |
| ENST00000678915.1:c.757+25dup | ENSP00000504805.1:n.757+25dup | |
| ENST00000679224.1:c.394+25dup | ENSP00000504475.1:n.394+25dup | |
| ENST00000227266.9:c.757+25dup | ENSP00000227266.4:n.757+25dup | |
| ENST00000527018.5:c.627+25dup | ||
| NM_001814.4:c.757+25dup , LRG_50t1:c.757+25dup | NP_001805.3:n.757+25dup | |
| NM_001814.5:c.757+25dup | NP_001805.3:n.757+25dup | |
| NM_001814.6:c.757+25dup MANE Select | NP_001805.4:n.757+25dup |