Linked Data
dbSNP Id:
rs1301969447
gnomAD v2:
14-103567156-T-TTGGCCTCCTGGGCTC
gnomAD v3:
14-103100819-T-TTGGCCTCCTGGGCTC
gnomAD v4:
14-103100819-T-TTGGCCTCCTGGGCTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.103100820_103100834dup , CM000676.2:g.103100820_103100834dup | GRCh38 |
| NC_000014.8:g.103567157_103567171dup , CM000676.1:g.103567157_103567171dup | GRCh37 |
| NC_000014.7:g.102636910_102636924dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687959.1:c.394+207_394+221dup | ENSP00000508483.1:n.394+207_394+221dup | |
| ENST00000688303.1:c.394+207_394+221dup MANE Select | ENSP00000509130.1:n.394+207_394+221dup | |
| ENST00000380069.7:c.394+207_394+221dup | ENSP00000369409.3:n.394+207_394+221dup | |
| ENST00000559116.1:c.286+207_286+221dup | ENSP00000454163.1:n.286+207_286+221dup | |
| NM_001077594.1:c.394+207_394+221dup | NP_001071062.1:n.394+207_394+221dup | |
| XM_011537323.1:c.568+207_568+221dup | XP_011535625.1:n.568+207_568+221dup | |
| XM_011537324.1:c.568+207_568+221dup | XP_011535626.1:n.568+207_568+221dup | |
| XM_011537325.1:c.394+207_394+221dup | XP_011535627.1:n.394+207_394+221dup | |
| XM_011537326.1:c.394+207_394+221dup | XP_011535628.1:n.394+207_394+221dup | |
| XM_011537327.1:c.394+207_394+221dup | XP_011535629.1:n.394+207_394+221dup | |
| XM_011537328.1:c.394+207_394+221dup | XP_011535630.1:n.394+207_394+221dup | |
| XM_011537329.1:c.394+207_394+221dup | XP_011535631.1:n.394+207_394+221dup | |
| XM_011537330.1:c.394+207_394+221dup | XP_011535632.1:n.394+207_394+221dup | |
| XM_011537331.1:c.394+207_394+221dup | XP_011535633.1:n.394+207_394+221dup | |
| XM_011537332.1:c.394+207_394+221dup | XP_011535634.1:n.394+207_394+221dup | |
| XM_011537333.1:c.505+207_505+221dup | XP_011535635.1:n.505+207_505+221dup | |
| XM_011537334.1:c.-882+207_-882+221dup | XP_011535636.1:n.-882+207_-882+221dup | |
| XR_943558.1:n.1123+207_1123+221dup | ||
| XM_011537323.3:c.568+207_568+221dup | XP_011535625.1:n.568+207_568+221dup | |
| XM_011537324.2:c.568+207_568+221dup | XP_011535626.1:n.568+207_568+221dup | |
| XM_011537325.2:c.394+207_394+221dup | XP_011535627.1:n.394+207_394+221dup | |
| XM_011537327.2:c.394+207_394+221dup | XP_011535629.1:n.394+207_394+221dup | |
| XM_011537328.2:c.394+207_394+221dup | XP_011535630.1:n.394+207_394+221dup | |
| XM_011537329.2:c.394+207_394+221dup | XP_011535631.1:n.394+207_394+221dup | |
| XM_011537330.2:c.394+207_394+221dup | XP_011535632.1:n.394+207_394+221dup | |
| XM_011537332.2:c.394+207_394+221dup | XP_011535634.1:n.394+207_394+221dup | |
| XM_011537333.2:c.505+207_505+221dup | XP_011535635.1:n.505+207_505+221dup | |
| XR_943558.2:n.1150+207_1150+221dup | ||
| NM_001077594.2:c.394+207_394+221dup MANE Select | NP_001071062.1:n.394+207_394+221dup | |
| NM_001394941.1:c.394+207_394+221dup | NP_001381870.1:n.394+207_394+221dup | |
| NM_001394942.1:c.394+207_394+221dup | NP_001381871.1:n.394+207_394+221dup |