Linked Data
dbSNP Id:
rs1565324859
gnomAD v2:
11-116661358-T-TCGG
gnomAD v4:
11-116790642-T-TCGG
MyVariant Identifiers:
chr11:g.116661358_116661359insCGG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116790645_116790647dup , CM000673.2:g.116790645_116790647dup | GRCh38 |
| NC_000011.9:g.116661361_116661363dup , CM000673.1:g.116661361_116661363dup | GRCh37 |
| NC_000011.8:g.116166571_116166573dup | NCBI36 |
| NG_015894.1:g.6776_6778dup | |
| NG_015894.2:g.6776_6778dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227665.9:c.584_586dup MANE Select | ENSP00000227665.4:p.Ala195_Glu196insAla | |
| ENST00000433069.2:c.584_586dup | ENSP00000399701.2:p.Ala195_Glu196insAla | |
| ENST00000673688.1:c.668_670dup | ENSP00000501141.1:p.Ala223_Glu224insAla | |
| ENST00000227665.8:c.584_586dup | ENSP00000227665.4:p.Ala195_Glu196insAla | |
| ENST00000542499.5:c.584_586dup | ENSP00000445002.1:p.Ala195_Glu196insAla | |
| NM_001166598.1:c.584_586dup | NP_001160070.1:p.Ala195_Glu196insAla | |
| NM_052968.4:c.584_586dup | NP_443200.2:p.Ala195_Glu196insAla | |
| NM_001166598.2:c.584_586dup | NP_001160070.1:p.Ala195_Glu196insAla | |
| NM_001371904.1:c.584_586dup MANE Select | NP_001358833.1:p.Ala195_Glu196insAla | |
| NM_052968.5:c.584_586dup | NP_443200.2:p.Ala195_Glu196insAla |