Linked Data
dbSNP Id:
rs761263453
gnomAD v2:
18-48603148-T-TCTGTC
gnomAD v3:
18-51076778-T-TCTGTC
gnomAD v4:
18-51076778-T-TCTGTC
MyVariant Identifiers:
chr18:g.48603148_48603149insCTGTC (hg19)
chr18:g.51076778_51076779insCTGTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51076778_51076779insCTGTC , CM000680.2:g.51076778_51076779insCTGTC | GRCh38 |
| NC_000018.9:g.48603148_48603149insCTGTC , CM000680.1:g.48603148_48603149insCTGTC | GRCh37 |
| NC_000018.8:g.46857146_46857147insCTGTC | NCBI36 |
| NG_013013.2:g.113739_113740insCTGTC , LRG_318:g.113739_113740insCTGTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.1447+2_1447+3insCTGTC | ENSP00000465878.2:n.1447+2_1447+3insCTGTC | |
| ENST00000589076.6:c.1447+2_1447+3insCTGTC | ENSP00000466934.2:n.1447+2_1447+3insCTGTC | |
| ENST00000589941.2:c.1447+2_1447+3insCTGTC | ENSP00000465874.2:n.1447+2_1447+3insCTGTC | |
| ENST00000590061.2:c.1447+2_1447+3insCTGTC | ENSP00000464772.2:n.1447+2_1447+3insCTGTC | |
| ENST00000593223.2:c.1449_1450insCTGTC | ENSP00000466118.2:p.Lys484LeufsTer10 | |
| ENST00000611848.2:c.1447+2_1447+3insCTGTC | ENSP00000478613.2:n.1447+2_1447+3insCTGTC | |
| ENST00000684953.1:n.2821_2822insCTGTC | ||
| ENST00000685090.1:n.1900_1901insCTGTC | ||
| ENST00000685232.1:n.1555+2_1555+3insCTGTC | ||
| ENST00000688574.1:n.1555+2_1555+3insCTGTC | ||
| ENST00000691124.1:n.2931_2932insCTGTC | ||
| ENST00000342988.8:c.1447+2_1447+3insCTGTC MANE Select | ENSP00000341551.3:n.1447+2_1447+3insCTGTC | |
| ENST00000342988.7:c.1447+2_1447+3insCTGTC | ENSP00000341551.3:n.1447+2_1447+3insCTGTC | |
| ENST00000398417.6:c.1447+2_1447+3insCTGTC | ENSP00000381452.1:n.1447+2_1447+3insCTGTC | |
| ENST00000588745.5:c.1159+2_1159+3insCTGTC | ENSP00000464901.1:n.1159+2_1159+3insCTGTC | |
| ENST00000590499.1:n.505+2_505+3insCTGTC | ||
| ENST00000591126.5:n.3448+2_3448+3insCTGTC | ||
| ENST00000592186.5:c.1094+2_1094+3insCTGTC | ENSP00000468611.1:n.1094+2_1094+3insCTGTC | |
| ENST00000593223.1:c.216_217insCTGTC | ENSP00000466118.1:p.Lys73LeufsTer10 | |
| ENST00000611848.1:c.647+2_647+3insCTGTC | ||
| NM_005359.5:c.1447+2_1447+3insCTGTC , LRG_318t1:c.1447+2_1447+3insCTGTC | NP_005350.1:n.1447+2_1447+3insCTGTC | |
| NM_005359.6:c.1447+2_1447+3insCTGTC MANE Select | NP_005350.1:n.1447+2_1447+3insCTGTC |