Linked Data
dbSNP Id:
rs780186998
ExAC:
14:21883683 A / AATAG
gnomAD v2:
14-21883683-A-AATAG
gnomAD v3:
14-21415524-A-AATAG
gnomAD v4:
14-21415524-A-AATAG
MyVariant Identifiers:
chr14:g.21883683_21883684insATAG (hg19)
chr14:g.21415524_21415525insATAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21415527_21415528insGATA , CM000676.2:g.21415527_21415528insGATA | GRCh38 |
| NC_000014.8:g.21883686_21883687insGATA , CM000676.1:g.21883686_21883687insGATA | GRCh37 |
| NC_000014.7:g.20953526_20953527insGATA | NCBI36 |
| NG_021249.1:g.26774_26775insCTAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430710.8:c.1131+49_1131+50insCTAT | ENSP00000406288.3:n.1131+49_1131+50insCTAT | |
| ENST00000555962.6:c.-110-12483_-110-12482insCTAT | ENSP00000495174.1:n.-110-12483_-110-12482insCTAT | |
| ENST00000557364.6:c.1968+49_1968+50insCTAT | ENSP00000451601.1:n.1968+49_1968+50insCTAT | |
| ENST00000642914.1:n.1000_1001insCTAT | ||
| ENST00000643469.1:c.1968+49_1968+50insCTAT | ENSP00000495070.1:n.1968+49_1968+50insCTAT | |
| ENST00000645140.1:c.1880+49_1880+50insCTAT | ||
| ENST00000645206.1:n.482+49_482+50insCTAT | ||
| ENST00000645929.1:c.1131+49_1131+50insCTAT | ENSP00000494402.1:n.1131+49_1131+50insCTAT | |
| ENST00000646340.1:c.1974+49_1974+50insCTAT | ENSP00000496730.1:n.1974+49_1974+50insCTAT | |
| ENST00000646647.2:c.1968+49_1968+50insCTAT MANE Select | ENSP00000495240.1:n.1968+49_1968+50insCTAT | |
| ENST00000399982.6:c.1968+49_1968+50insCTAT | ENSP00000382863.2:n.1968+49_1968+50insCTAT | |
| ENST00000430710.7:c.1131+49_1131+50insCTAT | ENSP00000406288.3:n.1131+49_1131+50insCTAT | |
| ENST00000555962.5:n.151-12483_151-12482insCTAT | ||
| ENST00000557364.5:c.1968+49_1968+50insCTAT | ENSP00000451601.1:n.1968+49_1968+50insCTAT | |
| NM_001170629.1:c.1968+49_1968+50insCTAT | NP_001164100.1:n.1968+49_1968+50insCTAT | |
| NM_020920.3:c.1131+49_1131+50insCTAT | NP_065971.2:n.1131+49_1131+50insCTAT | |
| NM_001170629.2:c.1968+49_1968+50insCTAT MANE Select | NP_001164100.1:n.1968+49_1968+50insCTAT | |
| NM_020920.4:c.1131+49_1131+50insCTAT | NP_065971.2:n.1131+49_1131+50insCTAT |