Canonical Allele Identifier: CA2845030466

Gene: GGCX

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85558968_85558969del , CM000664.2:g.85558968_85558969del	GRCh38
NC_000002.11:g.85786091_85786092del , CM000664.1:g.85786091_85786092del	GRCh37
NC_000002.10:g.85639602_85639603del	NCBI36
NG_011811.2:g.7566_7567del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.107_108del
ENST00000482662.2:n.388_389del
ENST00000496962.2:c.321_322del	ENSP00000508856.1:p.Arg108ProfsTer5
ENST00000685865.1:n.413_414del
ENST00000687250.1:n.424_425del
ENST00000687995.1:n.362_363del
ENST00000688205.1:c.321_322del	ENSP00000509673.1:p.Arg108ProfsTer5
ENST00000688788.1:n.413_414del
ENST00000689276.1:c.321_322del	ENSP00000510012.1:p.Arg108ProfsTer5
ENST00000689576.1:c.321_322del	ENSP00000508712.1:p.Arg108ProfsTer5
ENST00000690108.1:c.321_322del	ENSP00000510617.1:p.Arg108ProfsTer5
ENST00000690468.1:c.150_151del	ENSP00000509078.1:p.Arg51ProfsTer5
ENST00000690595.1:c.214+1846_214+1847del	ENSP00000508979.1:n.214+1846_214+1847del
ENST00000691348.1:c.150_151del	ENSP00000509369.1:p.Arg51ProfsTer5
ENST00000691410.1:c.321_322del	ENSP00000508479.1:p.Arg108ProfsTer5
ENST00000693287.1:c.-67+2417_-67+2418del	ENSP00000510264.1:n.-67+2417_-67+2418del
ENST00000693681.1:c.150_151del	ENSP00000510789.1:p.Arg51ProfsTer5
ENST00000233838.9:c.321_322del MANE Select	ENSP00000233838.3:p.Arg108ProfsTer5
ENST00000233838.8:c.321_322del	ENSP00000233838.3:p.Arg108ProfsTer5
ENST00000421496.5:c.150_151del	ENSP00000400384.1:p.Arg51ProfsTer5
ENST00000423570.5:c.321_322del	ENSP00000389426.1:p.Arg108ProfsTer5
ENST00000428479.3:c.150_151del	ENSP00000390748.3:p.Arg51ProfsTer5
ENST00000430215.7:c.150_151del	ENSP00000408045.3:p.Arg51ProfsTer5
ENST00000465637.5:n.178+37_178+38del
ENST00000481541.1:n.215_216del
ENST00000496962.1:n.440_441del
NM_000821.5:c.321_322del	NP_000812.2:p.Arg108ProfsTer5
NM_000821.6:c.321_322del	NP_000812.2:p.Arg108ProfsTer5
NM_001142269.2:c.150_151del	NP_001135741.1:p.Arg51ProfsTer5
NM_001142269.3:c.150_151del	NP_001135741.1:p.Arg51ProfsTer5
NM_001311312.1:c.321_322del	NP_001298241.1:p.Arg108ProfsTer5
XM_005264259.3:c.321_322del	XP_005264316.1:p.Arg108ProfsTer5
XM_011532764.1:c.-338_-337del	XP_011531066.1:n.-338_-337del
XM_011532765.1:c.-338_-337del	XP_011531067.1:n.-338_-337del
XR_939677.1:n.386_387del
XM_005264259.5:c.321_322del	XP_005264316.1:p.Arg108ProfsTer5
XM_011532764.3:c.-338_-337del	XP_011531066.1:n.-338_-337del
XM_011532765.3:c.-338_-337del	XP_011531067.1:n.-338_-337del
XM_017003803.2:c.150_151del	XP_016859292.1:p.Arg51ProfsTer5
XR_001738703.2:n.386_387del
NM_000821.7:c.321_322del MANE Select	NP_000812.2:p.Arg108ProfsTer5
NM_001142269.4:c.150_151del	NP_001135741.1:p.Arg51ProfsTer5
NM_001311312.2:c.321_322del	NP_001298241.1:p.Arg108ProfsTer5