Linked Data
dbSNP Id:
rs35902963
MyVariant Identifiers:
chr11:g.5247912_5247913insCCGAGC (hg19)
chr11:g.5226682_5226683insCCGAGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226683_5226688dup , CM000673.2:g.5226683_5226688dup | GRCh38 |
| NC_000011.9:g.5247913_5247918dup , CM000673.1:g.5247913_5247918dup | GRCh37 |
| NC_000011.8:g.5204489_5204494dup | NCBI36 |
| NG_000007.3:g.70928_70933dup | |
| NG_059281.1:g.5384_5389dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.204_209dup | ENSP00000494175.1:p.Gly70_Ala71insLeuGly | |
| ENST00000335295.4:c.204_209dup MANE Select | ENSP00000333994.3:p.Gly70_Ala71insLeuGly | |
| ENST00000380315.2:c.204_209dup | ENSP00000369671.2:p.Gly70_Ala71insLeuGly | |
| ENST00000475226.1:n.136_141dup | ||
| ENST00000485743.1:n.255_260dup | ||
| ENST00000633227.1:c.*20_*25dup | ENSP00000488004.1:n.*20_*25dup | |
| NM_000518.4:c.204_209dup | NP_000509.1:p.Gly70_Ala71insLeuGly | |
| NM_000518.5:c.204_209dup MANE Select | NP_000509.1:p.Gly70_Ala71insLeuGly |