Linked Data
dbSNP Id:
rs1343243444
gnomAD v2:
11-44129376-T-TGGG
gnomAD v3:
11-44107826-T-TGGG
gnomAD v4:
11-44107826-T-TGGG
MyVariant Identifiers:
chr11:g.44129376_44129377insGGG (hg19)
chr11:g.44107826_44107827insGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44107827_44107828insGGG , CM000673.2:g.44107827_44107828insGGG | GRCh38 |
| NC_000011.9:g.44129377_44129378insGGG , CM000673.1:g.44129377_44129378insGGG | GRCh37 |
| NC_000011.8:g.44085953_44085954insGGG | NCBI36 |
| NG_007560.1:g.17279_17280insGGG , LRG_494:g.17279_17280insGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343631.4:c.115_116insGGG | ENSP00000342656.3:p.Ile38_Ala39insGly | |
| ENST00000395673.8:c.115_116insGGG | ENSP00000379032.4:p.Ile38_Ala39insGly | |
| ENST00000531161.6:n.274_275insGGG | ||
| ENST00000682359.1:c.115_116insGGG | ENSP00000508226.1:p.Ile38_Ala39insGly | |
| ENST00000682711.1:c.-544+11975_-544+11976insGGG | ENSP00000506803.1:n.-544+11975_-544+11976insGGG | |
| ENST00000682815.1:c.115_116insGGG | ENSP00000507234.1:p.Ile38_Ala39insGly | |
| ENST00000682947.1:n.289_290insGGG | ||
| ENST00000682993.1:c.115_116insGGG | ENSP00000507580.1:p.Ile38_Ala39insGly | |
| ENST00000683000.1:c.115_116insGGG | ENSP00000508361.1:p.Ile38_Ala39insGly | |
| ENST00000683299.1:n.532_533insGGG | ||
| ENST00000683870.1:c.115_116insGGG | ENSP00000507922.1:p.Ile38_Ala39insGly | |
| ENST00000683881.1:n.2676_2677insGGG | ||
| ENST00000684039.1:c.115_116insGGG | ENSP00000507677.1:p.Ile38_Ala39insGly | |
| ENST00000684124.1:c.115_116insGGG | ENSP00000508332.1:p.Ile38_Ala39insGly | |
| ENST00000684533.1:c.115_116insGGG | ENSP00000507915.1:p.Ile38_Ala39insGly | |
| ENST00000533608.7:c.115_116insGGG MANE Select | ENSP00000431173.2:p.Ile38_Ala39insGly | |
| ENST00000343631.3:c.115_116insGGG | ENSP00000342656.3:p.Ile38_Ala39insGly | |
| ENST00000358681.8:c.115_116insGGG | ENSP00000351509.4:p.Ile38_Ala39insGly | |
| ENST00000395673.7:c.214_215insGGG | ENSP00000379032.3:p.Ile71_Ala72insGly | |
| ENST00000527014.1:c.115_116insGGG | ENSP00000434716.1:p.Ile38_Ala39insGly | |
| ENST00000532479.1:c.115_116insGGG | ENSP00000433827.1:p.Ile38_Ala39insGly | |
| ENST00000533608.5:c.115_116insGGG | ENSP00000431173.1:p.Ile38_Ala39insGly | |
| NM_000401.3:c.214_215insGGG , LRG_494t1:c.214_215insGGG | NP_000392.3:p.Ile71_Ala72insGly | |
| NM_001178083.1:c.115_116insGGG | NP_001171554.1:p.Ile38_Ala39insGly | |
| NM_207122.1:c.115_116insGGG , LRG_494t2:c.115_116insGGG | NP_997005.1:p.Ile38_Ala39insGly | |
| XM_011519950.1:c.253_254insGGG | XP_011518252.1:p.Ile84_Ala85insGly | |
| XM_011519951.1:c.154_155insGGG | XP_011518253.1:p.Ile51_Ala52insGly | |
| XM_024448383.1:c.253_254insGGG | XP_024304151.1:p.Ile84_Ala85insGly | |
| NM_001178083.2:c.115_116insGGG | NP_001171554.1:p.Ile38_Ala39insGly | |
| NM_207122.2:c.115_116insGGG MANE Select | NP_997005.1:p.Ile38_Ala39insGly | |
| NM_001178083.3:c.115_116insGGG | NP_001171554.1:p.Ile38_Ala39insGly | |
| NM_001389628.1:c.115_116insGGG | NP_001376557.1:p.Ile38_Ala39insGly | |
| NM_001389630.1:c.115_116insGGG | NP_001376559.1:p.Ile38_Ala39insGly |