Linked Data
ClinVar Variation Id:
1229174
ClinVar RCV Id:
RCV001609414
dbSNP Id:
rs34695967
gnomAD v2:
14-21883665-A-AAAAT
gnomAD v3:
14-21415506-A-AAAAT
gnomAD v4:
14-21415506-A-AAAAT
MyVariant Identifiers:
chr14:g.21883704_21883705insTAAA (hg19)
chr14:g.21883701_21883702insAAAT (hg19)
chr14:g.21883677_21883678insAAAT (hg19)
chr14:g.21883665_21883666insAAAT (hg19)
chr14:g.21415545_21415546insTAAA (hg38)
chr14:g.21415542_21415543insAAAT (hg38)
chr14:g.21415518_21415519insAAAT (hg38)
chr14:g.21415506_21415507insAAAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21415542_21415545dup , CM000676.2:g.21415542_21415545dup | GRCh38 |
| NC_000014.8:g.21883701_21883704dup , CM000676.1:g.21883701_21883704dup | GRCh37 |
| NC_000014.7:g.20953541_20953544dup | NCBI36 |
| NG_021249.1:g.26789_26792dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430710.8:c.1131+64_1131+67dup | ENSP00000406288.3:n.1131+64_1131+67dup | |
| ENST00000555962.6:c.-110-12468_-110-12465dup | ENSP00000495174.1:n.-110-12468_-110-12465dup | |
| ENST00000557364.6:c.1968+64_1968+67dup | ENSP00000451601.1:n.1968+64_1968+67dup | |
| ENST00000642914.1:n.1015_1018dup | ||
| ENST00000643469.1:c.1968+64_1968+67dup | ENSP00000495070.1:n.1968+64_1968+67dup | |
| ENST00000645140.1:c.1880+64_1880+67dup | ||
| ENST00000645206.1:n.482+64_482+67dup | ||
| ENST00000645929.1:c.1131+64_1131+67dup | ENSP00000494402.1:n.1131+64_1131+67dup | |
| ENST00000646340.1:c.1974+64_1974+67dup | ENSP00000496730.1:n.1974+64_1974+67dup | |
| ENST00000646647.2:c.1968+64_1968+67dup MANE Select | ENSP00000495240.1:n.1968+64_1968+67dup | |
| ENST00000399982.6:c.1968+64_1968+67dup | ENSP00000382863.2:n.1968+64_1968+67dup | |
| ENST00000430710.7:c.1131+64_1131+67dup | ENSP00000406288.3:n.1131+64_1131+67dup | |
| ENST00000555962.5:n.151-12468_151-12465dup | ||
| ENST00000557364.5:c.1968+64_1968+67dup | ENSP00000451601.1:n.1968+64_1968+67dup | |
| NM_001170629.1:c.1968+64_1968+67dup | NP_001164100.1:n.1968+64_1968+67dup | |
| NM_020920.3:c.1131+64_1131+67dup | NP_065971.2:n.1131+64_1131+67dup | |
| NM_001170629.2:c.1968+64_1968+67dup MANE Select | NP_001164100.1:n.1968+64_1968+67dup | |
| NM_020920.4:c.1131+64_1131+67dup | NP_065971.2:n.1131+64_1131+67dup |