Linked Data
dbSNP Id:
rs1045708353
gnomAD v4:
11-18336040-C-CGGTTTT
MyVariant Identifiers:
chr11:g.18357587_18357588insGGTTTT (hg19)
chr11:g.18336040_18336041insGGTTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18336053_18336058dup , CM000673.2:g.18336053_18336058dup | GRCh38 |
| NC_000011.9:g.18357600_18357605dup , CM000673.1:g.18357600_18357605dup | GRCh37 |
| NC_000011.8:g.18314176_18314181dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265963.9:c.347+107_347+112dup MANE Select | ENSP00000265963.4:n.347+107_347+112dup | |
| ENST00000265963.8:c.347+107_347+112dup | ENSP00000265963.4:n.347+107_347+112dup | |
| ENST00000418116.6:n.546+107_546+112dup | ||
| ENST00000453096.6:c.347+107_347+112dup | ENSP00000393638.2:n.347+107_347+112dup | |
| ENST00000534641.5:c.-1-2056_-1-2051dup | ENSP00000435375.1:n.-1-2056_-1-2051dup | |
| ENST00000543932.5:n.760+107_760+112dup | ||
| NM_001142307.1:c.347+107_347+112dup | NP_001135779.1:n.347+107_347+112dup | |
| NM_005316.3:c.347+107_347+112dup | NP_005307.1:n.347+107_347+112dup | |
| XM_006718208.2:c.347+107_347+112dup | XP_006718271.1:n.347+107_347+112dup | |
| XM_006718208.3:c.347+107_347+112dup | XP_006718271.1:n.347+107_347+112dup | |
| XM_024448457.1:c.347+107_347+112dup | XP_024304225.1:n.347+107_347+112dup | |
| XM_024448458.1:c.347+107_347+112dup | XP_024304226.1:n.347+107_347+112dup | |
| NM_005316.4:c.347+107_347+112dup MANE Select | NP_005307.1:n.347+107_347+112dup | |
| NM_001142307.2:c.347+107_347+112dup | NP_001135779.1:n.347+107_347+112dup |