Linked Data
dbSNP Id:
rs781435655
ExAC:
5:66479916 A / AAAAT
gnomAD v2:
5-66479916-A-AAAAT
gnomAD v4:
5-67184088-A-AAAAT
MyVariant Identifiers:
chr5:g.66479916_66479917insAAAT (hg19)
chr5:g.67184088_67184089insAAAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.67184088_67184089insAAAT , CM000667.2:g.67184088_67184089insAAAT | GRCh38 |
| NC_000005.9:g.66479916_66479917insAAAT , CM000667.1:g.66479916_66479917insAAAT | GRCh37 |
| NC_000005.8:g.66515672_66515673insAAAT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256447.5:c.754_755insATTT MANE Select | ENSP00000256447.4:p.Leu252HisfsTer6 | |
| NM_005582.2:c.754_755insATTT | NP_005573.2:p.Leu252HisfsTer6 | |
| XM_005248504.3:c.715_716insATTT | XP_005248561.1:p.Leu239HisfsTer6 | |
| XM_005248504.4:c.715_716insATTT | XP_005248561.1:p.Leu239HisfsTer6 | |
| NM_005582.3:c.754_755insATTT MANE Select | NP_005573.2:p.Leu252HisfsTer6 |