Linked Data
dbSNP Id:
rs1319213248
gnomAD v3:
1-244863795-T-TTGC
gnomAD v4:
1-244863795-T-TTGC
MyVariant Identifiers:
chr1:g.245027097_245027098insTGC (hg19)
chr1:g.244863795_244863796insTGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244863802_244863804dup , CM000663.2:g.244863802_244863804dup | GRCh38 |
| NC_000001.10:g.245027104_245027106dup , CM000663.1:g.245027104_245027106dup | GRCh37 |
| NC_000001.9:g.243093727_243093729dup | NCBI36 |
| NG_042184.1:g.5728_5730dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704074.1:c.188_190dup | ||
| ENST00000283179.14:c.510_512dup | ENSP00000283179.10:p.Gln171_Gln172insGln | |
| ENST00000444376.7:c.510_512dup | ENSP00000393151.2:p.Gln171_Gln172insGln | |
| ENST00000476241.2:n.695_697dup | ||
| ENST00000638475.1:c.294_296dup | ENSP00000491305.1:p.Gln99_Gln100insGln | |
| ENST00000638952.1:n.741_743dup | ||
| ENST00000640218.2:c.510_512dup MANE Select | ENSP00000491215.1:p.Gln171_Gln172insGln | |
| ENST00000640306.1:c.510_512dup | ENSP00000491685.1:p.Gln171_Gln172insGln | |
| ENST00000640440.1:c.210_212dup | ENSP00000491263.1:p.Gln71_Gln72insGln | |
| ENST00000649899.1:n.734_736dup | ||
| ENST00000283179.13:c.510_512dup | ENSP00000283179.9:p.Gln171_Gln172insGln | |
| ENST00000444376.6:c.510_512dup | ENSP00000393151.2:p.Gln171_Gln172insGln | |
| ENST00000476241.1:n.694_696dup | ||
| NM_004501.3:c.510_512dup | NP_004492.2:p.Gln171_Gln172insGln | |
| NM_031844.2:c.510_512dup | NP_114032.2:p.Gln171_Gln172insGln | |
| NM_031844.3:c.510_512dup MANE Select | NP_114032.2:p.Gln171_Gln172insGln |