Linked Data
dbSNP Id:
rs376466744
gnomAD v2:
14-102505913-C-CGG
gnomAD v3:
14-102039576-C-CGG
gnomAD v4:
14-102039576-C-CGG
MyVariant Identifiers:
chr14:g.102505914_102505915insGG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102039582_102039583dup , CM000676.2:g.102039582_102039583dup | GRCh38 |
| NC_000014.8:g.102505919_102505920dup , CM000676.1:g.102505919_102505920dup | GRCh37 |
| NC_000014.7:g.101575672_101575673dup | NCBI36 |
| NG_008777.1:g.80055_80056dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*3054+36_*3054+37dup | ENSP00000506816.1:n.*3054+36_*3054+37dup | |
| ENST00000360184.10:c.11595+36_11595+37dup MANE Select | ENSP00000348965.4:n.11595+36_11595+37dup | |
| ENST00000553701.1:n.347-2809_347-2808dup | ||
| ENST00000556139.2:n.92_93dup | ||
| ENST00000557242.1:n.329-2809_329-2808dup | ||
| ENST00000557551.1:n.112-2809_112-2808dup | ||
| ENST00000643437.1:n.1549+36_1549+37dup | ||
| ENST00000643829.1:n.1424+36_1424+37dup | ||
| ENST00000644794.1:n.1714+36_1714+37dup | ||
| ENST00000644881.2:c.11595+36_11595+37dup | ENSP00000495022.2:n.11595+36_11595+37dup | |
| ENST00000645039.2:c.11595+36_11595+37dup | ENSP00000495220.2:n.11595+36_11595+37dup | |
| ENST00000645085.1:n.37_38dup | ||
| ENST00000645149.2:c.11448+36_11448+37dup | ENSP00000495944.2:n.11448+36_11448+37dup | |
| ENST00000645697.1:n.2258+36_2258+37dup | ||
| ENST00000647204.2:n.836+36_836+37dup | ||
| ENST00000647366.1:n.5149+36_5149+37dup | ||
| ENST00000679486.1:c.11595+36_11595+37dup | ENSP00000506688.1:n.11595+36_11595+37dup | |
| ENST00000679629.1:c.11595+36_11595+37dup | ENSP00000505589.1:n.11595+36_11595+37dup | |
| ENST00000679720.1:c.11595+36_11595+37dup | ENSP00000505938.1:n.11595+36_11595+37dup | |
| ENST00000679910.1:c.*2677+36_*2677+37dup | ENSP00000506521.1:n.*2677+36_*2677+37dup | |
| ENST00000680120.1:c.11595+36_11595+37dup | ENSP00000504863.1:n.11595+36_11595+37dup | |
| ENST00000680200.1:c.*854+36_*854+37dup | ENSP00000506166.1:n.*854+36_*854+37dup | |
| ENST00000680313.1:c.11595+36_11595+37dup | ENSP00000506208.1:n.11595+36_11595+37dup | |
| ENST00000680423.1:c.*3326+36_*3326+37dup | ENSP00000505483.1:n.*3326+36_*3326+37dup | |
| ENST00000680715.1:c.11595+36_11595+37dup | ENSP00000505332.1:n.11595+36_11595+37dup | |
| ENST00000681010.1:c.11595+36_11595+37dup | ENSP00000505201.1:n.11595+36_11595+37dup | |
| ENST00000681066.1:c.11595+36_11595+37dup | ENSP00000506344.1:n.11595+36_11595+37dup | |
| ENST00000681123.1:c.11595+36_11595+37dup | ENSP00000506124.1:n.11595+36_11595+37dup | |
| ENST00000681283.1:c.*307+36_*307+37dup | ENSP00000505667.1:n.*307+36_*307+37dup | |
| ENST00000681536.1:c.*4794+36_*4794+37dup | ENSP00000505821.1:n.*4794+36_*4794+37dup | |
| ENST00000681574.1:c.11595+36_11595+37dup | ENSP00000505523.1:n.11595+36_11595+37dup | |
| ENST00000681822.1:c.11595+36_11595+37dup | ENSP00000505744.1:n.11595+36_11595+37dup | |
| ENST00000360184.8:c.11595+36_11595+37dup | ENSP00000348965.4:n.11595+36_11595+37dup | |
| ENST00000556139.1:n.92_93dup | ||
| NM_001376.4:c.11595+36_11595+37dup | NP_001367.2:n.11595+36_11595+37dup | |
| NM_001376.5:c.11595+36_11595+37dup MANE Select | NP_001367.2:n.11595+36_11595+37dup |