Linked Data
ClinVar Variation Id:
447502
dbSNP Id:
rs1555212009
MyVariant Identifiers:
chr12:g.121432054_121432055insGGG (hg19)
chr12:g.120994251_120994252insGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120994251_120994252insGGG , CM000674.2:g.120994251_120994252insGGG | GRCh38 |
| NC_000012.11:g.121432054_121432055insGGG , CM000674.1:g.121432054_121432055insGGG | GRCh37 |
| NC_000012.10:g.119916437_119916438insGGG | NCBI36 |
| NG_011731.2:g.20506_20507insGGG , LRG_522:g.20506_20507insGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.750+51_750+52insGGG | ENSP00000453965.2:n.750+51_750+52insGGG | |
| ENST00000257555.11:c.801_802insGGG MANE Select | ENSP00000257555.5:p.Trp267_Phe268insGly | |
| ENST00000257555.10:c.801_802insGGG | ENSP00000257555.4:p.Trp267_Phe268insGly | |
| ENST00000400024.6:c.801_802insGGG | ENSP00000476181.1:p.Trp267_Phe268insGly | |
| ENST00000402929.5:n.936_937insGGG | ||
| ENST00000535955.5:n.43-3240_43-3239insGGG | ||
| ENST00000538626.2:n.191-3240_191-3239insGGG | ||
| ENST00000538646.5:c.614_615insGGG | ENSP00000443964.1:p.Gly205_Leu206insGly | |
| ENST00000540108.1:c.*241_*242insGGG | ENSP00000445445.1:n.*241_*242insGGG | |
| ENST00000541395.5:c.801_802insGGG | ENSP00000443112.1:p.Trp267_Phe268insGly | |
| ENST00000541924.5:c.713+545_713+546insGGG | ENSP00000440361.1:n.713+545_713+546insGGG | |
| ENST00000543427.5:c.633+625_633+626insGGG | ENSP00000439721.2:n.633+625_633+626insGGG | |
| ENST00000544413.2:c.801_802insGGG | ENSP00000438804.1:p.Trp267_Phe268insGly | |
| ENST00000544574.5:c.73-2366_73-2365insGGG | ENSP00000438565.1:n.73-2366_73-2365insGGG | |
| ENST00000560968.5:c.893+51_893+52insGGG | ||
| ENST00000615446.4:c.-257-2011_-257-2010insGGG | ENSP00000483994.1:n.-257-2011_-257-2010insGGG | |
| ENST00000617366.4:c.586+672_586+673insGGG | ENSP00000481967.1:n.586+672_586+673insGGG | |
| NM_000545.5:c.801_802insGGG , LRG_522t1:c.801_802insGGG | NP_000536.5:p.Trp267_Phe268insGly | |
| NM_000545.6:c.801_802insGGG | NP_000536.5:p.Trp267_Phe268insGly | |
| NM_001306179.1:c.801_802insGGG | NP_001293108.1:p.Trp267_Phe268insGly | |
| XM_005253931.2:c.801_802insGGG | XP_005253988.1:p.Trp267_Phe268insGly | |
| XM_024449168.1:c.801_802insGGG | XP_024304936.1:p.Trp267_Phe268insGly | |
| NM_000545.8:c.801_802insGGG MANE Select | NP_000536.6:p.Trp267_Phe268insGly | |
| NM_001306179.2:c.801_802insGGG | NP_001293108.2:p.Trp267_Phe268insGly |