Canonical Allele Identifier: CA534627842
Gene: GGCX HGNC NCBI

Linked Data

dbSNP Id: rs1317495298

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85553254_85553280dup , CM000664.2:g.85553254_85553280dup GRCh38
NC_000002.11:g.85780377_85780403dup , CM000664.1:g.85780377_85780403dup GRCh37
NC_000002.10:g.85633888_85633914dup NCBI36
NG_011811.2:g.13258_13284dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.5154_5180dup
ENST00000482662.2:n.3561_3587dup
ENST00000685865.1:n.1513_1539dup
ENST00000687250.1:n.1213_1239dup
ENST00000687995.1:n.1462_1488dup
ENST00000688205.1:c.*703_*729dup ENSP00000509673.1:n.*703_*729dup
ENST00000688788.1:n.1349_1375dup
ENST00000689276.1:c.1041_1067dup ENSP00000510012.1:p.Tyr356_Ser357insLeuLeuGluGlnLeuPheLeuProT...
ENST00000689576.1:c.1110_1136dup ENSP00000508712.1:p.Tyr379_Ser380insLeuLeuGluGlnLeuPheLeuProT...
ENST00000690108.1:c.*766_*792dup ENSP00000510617.1:n.*766_*792dup
ENST00000690468.1:c.831_857dup ENSP00000509078.1:p.Tyr286_Ser287insLeuLeuGluGlnLeuPheLeuProT...
ENST00000690595.1:c.435_461dup ENSP00000508979.1:p.Tyr154_Ser155insLeuLeuGluGlnLeuPheLeuProT...
ENST00000691348.1:c.939_965dup ENSP00000509369.1:p.Tyr322_Ser323insLeuLeuGluGlnLeuPheLeuProT...
ENST00000691410.1:c.*687_*713dup ENSP00000508479.1:n.*687_*713dup
ENST00000693287.1:c.426_452dup ENSP00000510264.1:p.Tyr151_Ser152insLeuLeuGluGlnLeuPheLeuProT...
ENST00000693681.1:c.423_449dup ENSP00000510789.1:p.Tyr150_Ser151insLeuLeuGluGlnLeuPheLeuProT...
ENST00000233838.9:c.1110_1136dup MANE Select ENSP00000233838.3:p.Tyr379_Ser380insLeuLeuGluGlnLeuPheLeuProT...
ENST00000233838.8:c.1110_1136dup ENSP00000233838.3:p.Tyr379_Ser380insLeuLeuGluGlnLeuPheLeuProT...
ENST00000430215.7:c.939_965dup ENSP00000408045.3:p.Tyr322_Ser323insLeuLeuGluGlnLeuPheLeuProT...
ENST00000465637.5:n.179-5273_179-5247dup
ENST00000473665.1:n.603_629dup
ENST00000482662.1:n.527_553dup
NM_000821.5:c.1110_1136dup NP_000812.2:p.Tyr379_Ser380insLeuLeuGluGlnLeuPheLeuProTyr
NM_000821.6:c.1110_1136dup NP_000812.2:p.Tyr379_Ser380insLeuLeuGluGlnLeuPheLeuProTyr
NM_001142269.2:c.939_965dup NP_001135741.1:p.Tyr322_Ser323insLeuLeuGluGlnLeuPheLeuProTyr
NM_001142269.3:c.939_965dup NP_001135741.1:p.Tyr322_Ser323insLeuLeuGluGlnLeuPheLeuProTyr
XM_005264259.3:c.1110_1136dup XP_005264316.1:p.Tyr379_Ser380insLeuLeuGluGlnLeuPheLeuProTyr
XM_011532764.1:c.288_314dup XP_011531066.1:p.Tyr105_Ser106insLeuLeuGluGlnLeuPheLeuProTyr
XM_011532765.1:c.288_314dup XP_011531067.1:p.Tyr105_Ser106insLeuLeuGluGlnLeuPheLeuProTyr
XR_939677.1:n.1175_1201dup
XM_005264259.5:c.1110_1136dup XP_005264316.1:p.Tyr379_Ser380insLeuLeuGluGlnLeuPheLeuProTyr
XM_011532764.3:c.288_314dup XP_011531066.1:p.Tyr105_Ser106insLeuLeuGluGlnLeuPheLeuProTyr
XM_011532765.3:c.288_314dup XP_011531067.1:p.Tyr105_Ser106insLeuLeuGluGlnLeuPheLeuProTyr
XM_017003803.2:c.939_965dup XP_016859292.1:p.Tyr322_Ser323insLeuLeuGluGlnLeuPheLeuProTyr
XR_001738703.2:n.1175_1201dup
NM_000821.7:c.1110_1136dup MANE Select NP_000812.2:p.Tyr379_Ser380insLeuLeuGluGlnLeuPheLeuProTyr
NM_001142269.4:c.939_965dup NP_001135741.1:p.Tyr322_Ser323insLeuLeuGluGlnLeuPheLeuProTyr