Linked Data
dbSNP Id:
rs1163892646
gnomAD v2:
5-149357843-A-ACTGTT
gnomAD v3:
5-149978280-A-ACTGTT
gnomAD v4:
5-149978280-A-ACTGTT
MyVariant Identifiers:
chr5:g.149357843_149357844insCTGTT (hg19)
chr5:g.149978280_149978281insCTGTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149978280_149978281insCTGTT , CM000667.2:g.149978280_149978281insCTGTT | GRCh38 |
| NC_000005.9:g.149357843_149357844insCTGTT , CM000667.1:g.149357843_149357844insCTGTT | GRCh37 |
| NC_000005.8:g.149338036_149338037insCTGTT | NCBI36 |
| NG_007147.2:g.19398_19399insCTGTT , LRG_684:g.19398_19399insCTGTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.860_861insCTGTT | ||
| ENST00000286298.5:c.628_629insCTGTT MANE Select | ENSP00000286298.4:p.Arg210ThrfsTer18 | |
| ENST00000286298.4:c.628_629insCTGTT | ENSP00000286298.4:p.Arg210ThrfsTer18 | |
| ENST00000503336.1:c.301_302insCTGTT | ENSP00000426053.1:p.Arg101ThrfsTer18 | |
| NM_000112.3:c.628_629insCTGTT , LRG_684t1:c.628_629insCTGTT | NP_000103.2:p.Arg210ThrfsTer18 | |
| XM_017009191.2:c.628_629insCTGTT | XP_016864680.1:p.Arg210ThrfsTer18 | |
| NM_000112.4:c.628_629insCTGTT MANE Select | NP_000103.2:p.Arg210ThrfsTer18 |