Canonical Allele Identifier: CA2577020942
Gene: GGCX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85553236del , CM000664.2:g.85553236del GRCh38
NC_000002.11:g.85780359del , CM000664.1:g.85780359del GRCh37
NC_000002.10:g.85633870del NCBI36
NG_011811.2:g.13301del

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.5197del
ENST00000482662.2:n.3604del
ENST00000685865.1:n.1556del
ENST00000687250.1:n.1256del
ENST00000687995.1:n.1505del
ENST00000688205.1:c.*746del ENSP00000509673.1:n.*746del
ENST00000688788.1:n.1392del
ENST00000689276.1:c.1084del ENSP00000510012.1:p.Gln362ArgfsTer17
ENST00000689576.1:c.1153del ENSP00000508712.1:p.Gln385ArgfsTer17
ENST00000690108.1:c.*809del ENSP00000510617.1:n.*809del
ENST00000690468.1:c.874del ENSP00000509078.1:p.Gln292ArgfsTer17
ENST00000690595.1:c.478del ENSP00000508979.1:p.Gln160ArgfsTer17
ENST00000691348.1:c.982del ENSP00000509369.1:p.Gln328ArgfsTer17
ENST00000691410.1:c.*730del ENSP00000508479.1:n.*730del
ENST00000693287.1:c.469del ENSP00000510264.1:p.Gln157ArgfsTer17
ENST00000693681.1:c.466del ENSP00000510789.1:p.Gln156ArgfsTer17
ENST00000233838.9:c.1153del MANE Select ENSP00000233838.3:p.Gln385ArgfsTer17
ENST00000233838.8:c.1153del ENSP00000233838.3:p.Gln385ArgfsTer17
ENST00000430215.7:c.982del ENSP00000408045.3:p.Gln328ArgfsTer17
ENST00000465637.5:n.179-5230del
ENST00000473665.1:n.646del
ENST00000482662.1:n.570del
NM_000821.5:c.1153del NP_000812.2:p.Gln385ArgfsTer17
NM_000821.6:c.1153del NP_000812.2:p.Gln385ArgfsTer17
NM_001142269.2:c.982del NP_001135741.1:p.Gln328ArgfsTer17
NM_001142269.3:c.982del NP_001135741.1:p.Gln328ArgfsTer17
XM_005264259.3:c.1153del XP_005264316.1:p.Gln385ArgfsTer17
XM_011532764.1:c.331del XP_011531066.1:p.Gln111ArgfsTer17
XM_011532765.1:c.331del XP_011531067.1:p.Gln111ArgfsTer17
XR_939677.1:n.1218del
XM_005264259.5:c.1153del XP_005264316.1:p.Gln385ArgfsTer17
XM_011532764.3:c.331del XP_011531066.1:p.Gln111ArgfsTer17
XM_011532765.3:c.331del XP_011531067.1:p.Gln111ArgfsTer17
XM_017003803.2:c.982del XP_016859292.1:p.Gln328ArgfsTer17
XR_001738703.2:n.1218del
NM_000821.7:c.1153del MANE Select NP_000812.2:p.Gln385ArgfsTer17
NM_001142269.4:c.982del NP_001135741.1:p.Gln328ArgfsTer17