Linked Data
dbSNP Id:
rs780497689
ExAC:
3:194325115 G / GGAC
gnomAD v2:
3-194325115-G-GGAC
gnomAD v4:
3-194604386-G-GGAC
MyVariant Identifiers:
chr3:g.194325115_194325116insGAC (hg19)
chr3:g.194604386_194604387insGAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.194604388_194604390dup , CM000665.2:g.194604388_194604390dup | GRCh38 |
| NC_000003.11:g.194325117_194325119dup , CM000665.1:g.194325117_194325119dup | GRCh37 |
| NC_000003.10:g.195806406_195806408dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347147.9:c.1074_1076dup MANE Select | ENSP00000333355.6:p.Ser359_Leu360insSer | |
| ENST00000347147.8:c.1074_1076dup | ENSP00000333355.6:p.Ser359_Leu360insSer | |
| ENST00000381975.7:c.1070_1072dup | ENSP00000371402.3:p.Arg357_Pro358insArg | |
| ENST00000392432.6:c.1215_1217dup | ENSP00000376227.2:p.Ser406_Leu407insSer | |
| ENST00000419280.5:c.*370_*372dup | ENSP00000414077.1:n.*370_*372dup | |
| ENST00000429560.1:c.266_268dup | ENSP00000403053.1:p.Arg89_Pro90insArg | |
| ENST00000432352.5:c.348_350dup | ENSP00000409963.1:p.Ser117_Leu118insSer | |
| ENST00000452358.5:c.573_575dup | ENSP00000414333.1:p.Ser192_Leu193insSer | |
| ENST00000467284.1:n.120_122dup | ||
| ENST00000473092.5:c.1074_1076dup | ENSP00000418674.1:p.Ser359_Leu360insSer | |
| ENST00000477651.5:n.838_840dup | ||
| NM_001011655.2:c.1074_1076dup | NP_001011655.1:p.Ser359_Leu360insSer | |
| NM_001166305.1:c.1215_1217dup | NP_001159777.1:p.Ser406_Leu407insSer | |
| NM_001166306.1:c.1070_1072dup | NP_001159778.1:p.Arg357_Pro358insArg | |
| NM_138399.4:c.1074_1076dup | NP_612408.3:p.Ser359_Leu360insSer | |
| XM_005269371.3:c.1074_1076dup | XP_005269428.1:p.Ser359_Leu360insSer | |
| XM_011513318.1:c.1224_1226dup | XP_011511620.1:p.Ser409_Leu410insSer | |
| XM_011513319.1:c.1161_1163dup | XP_011511621.1:p.Ser388_Leu389insSer | |
| XM_011513320.1:c.1272_1274dup | XP_011511622.1:p.Ser425_Leu426insSer | |
| XM_011513321.1:c.1140_1142dup | XP_011511623.1:p.Ser381_Leu382insSer | |
| XM_011513322.1:c.1131_1133dup | XP_011511624.1:p.Ser378_Leu379insSer | |
| XM_011513323.1:c.969_971dup | XP_011511625.1:p.Ser324_Leu325insSer | |
| XM_005269371.4:c.1074_1076dup | XP_005269428.1:p.Ser359_Leu360insSer | |
| XM_011513318.2:c.1224_1226dup | XP_011511620.1:p.Ser409_Leu410insSer | |
| XM_011513319.2:c.1161_1163dup | XP_011511621.1:p.Ser388_Leu389insSer | |
| XM_011513320.2:c.1272_1274dup | XP_011511622.1:p.Ser425_Leu426insSer | |
| XM_011513321.2:c.1140_1142dup | XP_011511623.1:p.Ser381_Leu382insSer | |
| XM_011513322.2:c.1131_1133dup | XP_011511624.1:p.Ser378_Leu379insSer | |
| XM_017007517.1:c.1083_1085dup | XP_016863006.1:p.Ser362_Leu363insSer | |
| XM_017007518.1:c.1083_1085dup | XP_016863007.1:p.Ser362_Leu363insSer | |
| NM_001011655.3:c.1074_1076dup MANE Select | NP_001011655.1:p.Ser359_Leu360insSer | |
| NM_001166305.2:c.1215_1217dup | NP_001159777.1:p.Ser406_Leu407insSer | |
| NM_001166306.2:c.1070_1072dup | NP_001159778.1:p.Arg357_Pro358insArg | |
| NM_138399.5:c.1074_1076dup | NP_612408.3:p.Ser359_Leu360insSer |