Linked Data
dbSNP Id:
rs376825267
gnomAD v2:
14-21883702-A-AAATAAATT
gnomAD v3:
14-21415543-A-AAATAAATT
gnomAD v4:
14-21415543-A-AAATAAATT
MyVariant Identifiers:
chr14:g.21883702_21883703insAATAAATT (hg19)
chr14:g.21415543_21415544insAATAAATT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21415545_21415546insTAAATTAA , CM000676.2:g.21415545_21415546insTAAATTAA | GRCh38 |
| NC_000014.8:g.21883704_21883705insTAAATTAA , CM000676.1:g.21883704_21883705insTAAATTAA | GRCh37 |
| NC_000014.7:g.20953544_20953545insTAAATTAA | NCBI36 |
| NG_021249.1:g.26755_26756insAATTTATT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430710.8:c.1131+30_1131+31insAATTTATT | ENSP00000406288.3:n.1131+30_1131+31insAATTTATT | |
| ENST00000555962.6:c.-110-12502_-110-12501insAATTTATT | ENSP00000495174.1:n.-110-12502_-110-12501insAATTTATT | |
| ENST00000557364.6:c.1968+30_1968+31insAATTTATT | ENSP00000451601.1:n.1968+30_1968+31insAATTTATT | |
| ENST00000642914.1:n.981_982insAATTTATT | ||
| ENST00000643469.1:c.1968+30_1968+31insAATTTATT | ENSP00000495070.1:n.1968+30_1968+31insAATTTATT | |
| ENST00000645140.1:c.1880+30_1880+31insAATTTATT | ||
| ENST00000645206.1:n.482+30_482+31insAATTTATT | ||
| ENST00000645929.1:c.1131+30_1131+31insAATTTATT | ENSP00000494402.1:n.1131+30_1131+31insAATTTATT | |
| ENST00000646340.1:c.1974+30_1974+31insAATTTATT | ENSP00000496730.1:n.1974+30_1974+31insAATTTATT | |
| ENST00000646647.2:c.1968+30_1968+31insAATTTATT MANE Select | ENSP00000495240.1:n.1968+30_1968+31insAATTTATT | |
| ENST00000399982.6:c.1968+30_1968+31insAATTTATT | ENSP00000382863.2:n.1968+30_1968+31insAATTTATT | |
| ENST00000430710.7:c.1131+30_1131+31insAATTTATT | ENSP00000406288.3:n.1131+30_1131+31insAATTTATT | |
| ENST00000555962.5:n.151-12502_151-12501insAATTTATT | ||
| ENST00000557364.5:c.1968+30_1968+31insAATTTATT | ENSP00000451601.1:n.1968+30_1968+31insAATTTATT | |
| NM_001170629.1:c.1968+30_1968+31insAATTTATT | NP_001164100.1:n.1968+30_1968+31insAATTTATT | |
| NM_020920.3:c.1131+30_1131+31insAATTTATT | NP_065971.2:n.1131+30_1131+31insAATTTATT | |
| NM_001170629.2:c.1968+30_1968+31insAATTTATT MANE Select | NP_001164100.1:n.1968+30_1968+31insAATTTATT | |
| NM_020920.4:c.1131+30_1131+31insAATTTATT | NP_065971.2:n.1131+30_1131+31insAATTTATT |