Linked Data
dbSNP Id:
rs886132043
gnomAD v2:
4-155486795-C-CAGTAA
gnomAD v3:
4-154565643-C-CAGTAA
gnomAD v4:
4-154565643-C-CAGTAA
MyVariant Identifiers:
chr4:g.155486795_155486796insAGTAA (hg19)
chr4:g.154565643_154565644insAGTAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154565644_154565648dup , CM000666.2:g.154565644_154565648dup | GRCh38 |
| NC_000004.11:g.155486796_155486800dup , CM000666.1:g.155486796_155486800dup | GRCh37 |
| NC_000004.10:g.155706246_155706250dup | NCBI36 |
| NG_008833.1:g.7665_7669dup , LRG_558:g.7665_7669dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302068.9:c.115-164_115-160dup MANE Select | ENSP00000306099.4:n.115-164_115-160dup | |
| ENST00000302068.8:c.115-164_115-160dup | ENSP00000306099.4:n.115-164_115-160dup | |
| ENST00000425838.5:c.*27-164_*27-160dup | ENSP00000398719.1:n.*27-164_*27-160dup | |
| ENST00000497097.5:n.122-164_122-160dup | ||
| ENST00000498375.2:n.581_585dup | ||
| ENST00000502545.5:n.96-164_96-160dup | ||
| ENST00000509493.1:c.-167-1949_-167-1945dup | ENSP00000426757.1:n.-167-1949_-167-1945dup | |
| NM_001184741.1:c.115-164_115-160dup | NP_001171670.1:n.115-164_115-160dup | |
| NM_005141.4:c.115-164_115-160dup , LRG_558t1:c.115-164_115-160dup | NP_005132.2:n.115-164_115-160dup | |
| NM_001382759.1:c.115-164_115-160dup | NP_001369688.1:n.115-164_115-160dup | |
| NM_001382760.1:c.115-164_115-160dup | NP_001369689.1:n.115-164_115-160dup | |
| NM_001382761.1:c.115-164_115-160dup | NP_001369690.1:n.115-164_115-160dup | |
| NM_001382762.1:c.115-164_115-160dup | NP_001369691.1:n.115-164_115-160dup | |
| NM_001382763.1:c.115-164_115-160dup | NP_001369692.1:n.115-164_115-160dup | |
| NM_001382764.1:c.115-164_115-160dup | NP_001369693.1:n.115-164_115-160dup | |
| NM_001382765.1:c.115-164_115-160dup | NP_001369694.1:n.115-164_115-160dup | |
| NM_005141.5:c.115-164_115-160dup MANE Select | NP_005132.2:n.115-164_115-160dup |