Canonical Allele Identifier: CA2750761572
Gene: GGCX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551795_85551797del , CM000664.2:g.85551795_85551797del GRCh38
NC_000002.11:g.85778918_85778920del , CM000664.1:g.85778918_85778920del GRCh37
NC_000002.10:g.85632429_85632431del NCBI36
NG_011811.2:g.14741_14743del

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.6087+18_6087+20del
ENST00000482662.2:n.4494+18_4494+20del
ENST00000685865.1:n.2464_2466del
ENST00000687250.1:n.2146+18_2146+20del
ENST00000687995.1:n.1961+18_1961+20del
ENST00000688205.1:c.*1202+18_*1202+20del ENSP00000509673.1:n.*1202+18_*1202+20del
ENST00000688788.1:n.1848+18_1848+20del
ENST00000689276.1:c.1540+18_1540+20del ENSP00000510012.1:n.1540+18_1540+20del
ENST00000689576.1:c.*228+18_*228+20del ENSP00000508712.1:n.*228+18_*228+20del
ENST00000690108.1:c.*1265+18_*1265+20del ENSP00000510617.1:n.*1265+18_*1265+20del
ENST00000690468.1:c.*161+18_*161+20del ENSP00000509078.1:n.*161+18_*161+20del
ENST00000690595.1:c.934+18_934+20del ENSP00000508979.1:n.934+18_934+20del
ENST00000691348.1:c.*161+18_*161+20del ENSP00000509369.1:n.*161+18_*161+20del
ENST00000691410.1:c.*1186+18_*1186+20del ENSP00000508479.1:n.*1186+18_*1186+20del
ENST00000693287.1:c.925+18_925+20del ENSP00000510264.1:n.925+18_925+20del
ENST00000693681.1:c.922+18_922+20del ENSP00000510789.1:n.922+18_922+20del
ENST00000233838.9:c.1609+18_1609+20del MANE Select ENSP00000233838.3:n.1609+18_1609+20del
ENST00000233838.8:c.1609+18_1609+20del ENSP00000233838.3:n.1609+18_1609+20del
ENST00000430215.7:c.1438+18_1438+20del ENSP00000408045.3:n.1438+18_1438+20del
ENST00000465637.5:n.179-3790_179-3788del
NM_000821.5:c.1609+18_1609+20del NP_000812.2:n.1609+18_1609+20del
NM_000821.6:c.1609+18_1609+20del NP_000812.2:n.1609+18_1609+20del
NM_001142269.2:c.1438+18_1438+20del NP_001135741.1:n.1438+18_1438+20del
NM_001142269.3:c.1438+18_1438+20del NP_001135741.1:n.1438+18_1438+20del
XM_005264259.3:c.1609+18_1609+20del XP_005264316.1:n.1609+18_1609+20del
XM_011532764.1:c.787+18_787+20del XP_011531066.1:n.787+18_787+20del
XM_011532765.1:c.787+18_787+20del XP_011531067.1:n.787+18_787+20del
XR_939677.1:n.1522+18_1522+20del
XM_005264259.5:c.1609+18_1609+20del XP_005264316.1:n.1609+18_1609+20del
XM_011532764.3:c.787+18_787+20del XP_011531066.1:n.787+18_787+20del
XM_011532765.3:c.787+18_787+20del XP_011531067.1:n.787+18_787+20del
XM_017003803.2:c.1438+18_1438+20del XP_016859292.1:n.1438+18_1438+20del
XR_001738703.2:n.1522+18_1522+20del
NM_000821.7:c.1609+18_1609+20del MANE Select NP_000812.2:n.1609+18_1609+20del
NM_001142269.4:c.1438+18_1438+20del NP_001135741.1:n.1438+18_1438+20del