Linked Data
ClinVar Variation Id:
408395
ClinVar RCV Id:
RCV000469803
dbSNP Id:
rs587781454
ExAC:
5:131931460 A / AT
gnomAD v2:
5-131931460-A-AT
gnomAD v3:
5-132595768-A-AT
gnomAD v4:
5-132595768-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132595768_132595769insT , CM000667.2:g.132595768_132595769insT | GRCh38 |
| NC_000005.9:g.131931460_131931461insT , CM000667.1:g.131931460_131931461insT | GRCh37 |
| NC_000005.8:g.131959359_131959360insT | NCBI36 |
| NG_021151.1:g.43845_43846insT | |
| NG_021151.2:g.43792_43793insT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.2165_2166insT MANE Select | ENSP00000368100.4:p.Lys722AsnfsTer6 | |
| ENST00000638452.2:c.1868_1869insT | ENSP00000492349.2:p.Lys623AsnfsTer6 | |
| ENST00000638504.1:n.1773_1774insT | ||
| ENST00000638568.2:c.1868_1869insT | ENSP00000491158.2:p.Lys623AsnfsTer6 | |
| ENST00000639899.1:n.2684_2685insT | ||
| ENST00000640655.2:c.1868_1869insT | ENSP00000491596.2:p.Lys623AsnfsTer6 | |
| ENST00000651160.1:c.*309_*310insT | ENSP00000498829.1:n.*309_*310insT | |
| ENST00000651658.1:n.2708_2709insT | ||
| ENST00000651723.1:c.*2248_*2249insT | ENSP00000498237.1:n.*2248_*2249insT | |
| ENST00000652016.1:c.*382_*383insT | ENSP00000498267.1:n.*382_*383insT | |
| ENST00000652485.1:c.2198_2199insT | ENSP00000498973.1:p.Lys733AsnfsTer6 | |
| ENST00000378823.7:c.2165_2166insT | ENSP00000368100.4:p.Lys722AsnfsTer6 | |
| ENST00000423956.5:c.*351_*352insT | ENSP00000390971.1:n.*351_*352insT | |
| ENST00000496204.1:n.248_249insT | ||
| ENST00000533482.5:c.*1791_*1792insT | ENSP00000431225.1:n.*1791_*1792insT | |
| NM_005732.3:c.2165_2166insT | NP_005723.2:p.Lys722AsnfsTer6 | |
| NM_005732.4:c.2165_2166insT MANE Select | NP_005723.2:p.Lys722AsnfsTer6 |