Linked Data
dbSNP Id:
rs35566564
gnomAD v2:
16-68863862-C-CTT
gnomAD v3:
16-68829959-C-CTT
gnomAD v4:
16-68829959-C-CTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68829973_68829974dup , CM000678.2:g.68829973_68829974dup | GRCh38 |
| NC_000016.9:g.68863876_68863877dup , CM000678.1:g.68863876_68863877dup | GRCh37 |
| NC_000016.8:g.67421377_67421378dup | NCBI36 |
| NG_008021.1:g.97682_97683dup , LRG_301:g.97682_97683dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2439+176_2439+177dup MANE Select | ENSP00000261769.4:n.2439+176_2439+177dup | |
| ENST00000261769.9:c.2439+176_2439+177dup | ENSP00000261769.4:n.2439+176_2439+177dup | |
| ENST00000422392.6:c.2256+176_2256+177dup | ENSP00000414946.2:n.2256+176_2256+177dup | |
| ENST00000562118.1:n.657+176_657+177dup | ||
| ENST00000562836.5:n.2510+176_2510+177dup | ||
| ENST00000566510.5:c.*1105+176_*1105+177dup | ENSP00000458139.1:n.*1105+176_*1105+177dup | |
| ENST00000566612.5:c.*679+176_*679+177dup | ENSP00000454782.1:n.*679+176_*679+177dup | |
| ENST00000611625.4:c.2502+176_2502+177dup | ENSP00000481063.1:n.2502+176_2502+177dup | |
| ENST00000612417.4:c.1853+3419_1853+3420dup | ENSP00000478360.1:n.1853+3419_1853+3420dup | |
| ENST00000621016.4:c.1866-4230_1866-4229dup | ENSP00000480664.1:n.1866-4230_1866-4229dup | |
| NM_004360.3:c.2439+176_2439+177dup , LRG_301t1:c.2439+176_2439+177dup | NP_004351.1:n.2439+176_2439+177dup | |
| XM_011523488.1:c.1704+176_1704+177dup | XP_011521790.1:n.1704+176_1704+177dup | |
| XM_011523489.1:c.1704+176_1704+177dup | XP_011521791.1:n.1704+176_1704+177dup | |
| NM_001317184.1:c.2256+176_2256+177dup | NP_001304113.1:n.2256+176_2256+177dup | |
| NM_001317185.1:c.891+176_891+177dup | NP_001304114.1:n.891+176_891+177dup | |
| NM_001317186.1:c.474+176_474+177dup | NP_001304115.1:n.474+176_474+177dup | |
| NM_004360.4:c.2439+176_2439+177dup | NP_004351.1:n.2439+176_2439+177dup | |
| NM_004360.5:c.2439+176_2439+177dup MANE Select | NP_004351.1:n.2439+176_2439+177dup | |
| NM_001317184.2:c.2256+176_2256+177dup | NP_001304113.1:n.2256+176_2256+177dup | |
| NM_001317185.2:c.891+176_891+177dup | NP_001304114.1:n.891+176_891+177dup | |
| NM_001317186.2:c.474+176_474+177dup | NP_001304115.1:n.474+176_474+177dup |