Linked Data
dbSNP Id:
rs1371760980
gnomAD v2:
14-21883707-T-TAAAAAA
gnomAD v3:
14-21415548-T-TAAAAAA
gnomAD v4:
14-21415548-T-TAAAAAA
MyVariant Identifiers:
chr14:g.21883707_21883708insAAAAAA (hg19)
chr14:g.21415548_21415549insAAAAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21415550_21415551insAAAAAA , CM000676.2:g.21415550_21415551insAAAAAA | GRCh38 |
| NC_000014.8:g.21883709_21883710insAAAAAA , CM000676.1:g.21883709_21883710insAAAAAA | GRCh37 |
| NC_000014.7:g.20953549_20953550insAAAAAA | NCBI36 |
| NG_021249.1:g.26750_26751insTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430710.8:c.1131+25_1131+26insTTTTTT | ENSP00000406288.3:n.1131+25_1131+26insTTTTTT | |
| ENST00000555962.6:c.-110-12507_-110-12506insTTTTTT | ENSP00000495174.1:n.-110-12507_-110-12506insTTTTTT | |
| ENST00000557364.6:c.1968+25_1968+26insTTTTTT | ENSP00000451601.1:n.1968+25_1968+26insTTTTTT | |
| ENST00000642914.1:n.976_977insTTTTTT | ||
| ENST00000643469.1:c.1968+25_1968+26insTTTTTT | ENSP00000495070.1:n.1968+25_1968+26insTTTTTT | |
| ENST00000645140.1:c.1880+25_1880+26insTTTTTT | ||
| ENST00000645206.1:n.482+25_482+26insTTTTTT | ||
| ENST00000645929.1:c.1131+25_1131+26insTTTTTT | ENSP00000494402.1:n.1131+25_1131+26insTTTTTT | |
| ENST00000646340.1:c.1974+25_1974+26insTTTTTT | ENSP00000496730.1:n.1974+25_1974+26insTTTTTT | |
| ENST00000646647.2:c.1968+25_1968+26insTTTTTT MANE Select | ENSP00000495240.1:n.1968+25_1968+26insTTTTTT | |
| ENST00000399982.6:c.1968+25_1968+26insTTTTTT | ENSP00000382863.2:n.1968+25_1968+26insTTTTTT | |
| ENST00000430710.7:c.1131+25_1131+26insTTTTTT | ENSP00000406288.3:n.1131+25_1131+26insTTTTTT | |
| ENST00000555962.5:n.151-12507_151-12506insTTTTTT | ||
| ENST00000557364.5:c.1968+25_1968+26insTTTTTT | ENSP00000451601.1:n.1968+25_1968+26insTTTTTT | |
| NM_001170629.1:c.1968+25_1968+26insTTTTTT | NP_001164100.1:n.1968+25_1968+26insTTTTTT | |
| NM_020920.3:c.1131+25_1131+26insTTTTTT | NP_065971.2:n.1131+25_1131+26insTTTTTT | |
| NM_001170629.2:c.1968+25_1968+26insTTTTTT MANE Select | NP_001164100.1:n.1968+25_1968+26insTTTTTT | |
| NM_020920.4:c.1131+25_1131+26insTTTTTT | NP_065971.2:n.1131+25_1131+26insTTTTTT |