Canonical Allele Identifier: CA2580068278

Gene: GGCX

Linked Data

• ClinVar Variation Id: 2132149
• ClinVar RCV Id: RCV003036600

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553019_85553024del , CM000664.2:g.85553019_85553024del	GRCh38
NC_000002.11:g.85780142_85780147del , CM000664.1:g.85780142_85780147del	GRCh37
NC_000002.10:g.85633653_85633658del	NCBI36
NG_011811.2:g.13513_13518del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5248_5253del
ENST00000482662.2:n.3655_3660del
ENST00000685865.1:n.1607_1612del
ENST00000687250.1:n.1307_1312del
ENST00000687995.1:n.1556_1561del
ENST00000688205.1:c.*797_*802del	ENSP00000509673.1:n.*797_*802del
ENST00000688788.1:n.1443_1448del
ENST00000689276.1:c.1135_1140del	ENSP00000510012.1:p.Met379_Val380del
ENST00000689576.1:c.1204_1209del	ENSP00000508712.1:p.Met402_Val403del
ENST00000690108.1:c.*860_*865del	ENSP00000510617.1:n.*860_*865del
ENST00000690468.1:c.925_930del	ENSP00000509078.1:p.Met309_Val310del
ENST00000690595.1:c.529_534del	ENSP00000508979.1:p.Met177_Val178del
ENST00000691348.1:c.1033_1038del	ENSP00000509369.1:p.Met345_Val346del
ENST00000691410.1:c.*781_*786del	ENSP00000508479.1:n.*781_*786del
ENST00000693287.1:c.520_525del	ENSP00000510264.1:p.Met174_Val175del
ENST00000693681.1:c.517_522del	ENSP00000510789.1:p.Met173_Val174del
ENST00000233838.9:c.1204_1209del MANE Select	ENSP00000233838.3:p.Met402_Val403del
ENST00000233838.8:c.1204_1209del	ENSP00000233838.3:p.Met402_Val403del
ENST00000430215.7:c.1033_1038del	ENSP00000408045.3:p.Met345_Val346del
ENST00000465637.5:n.179-5018_179-5013del
ENST00000473665.1:n.697_702del
ENST00000482662.1:n.621_626del
NM_000821.5:c.1204_1209del	NP_000812.2:p.Met402_Val403del
NM_000821.6:c.1204_1209del	NP_000812.2:p.Met402_Val403del
NM_001142269.2:c.1033_1038del	NP_001135741.1:p.Met345_Val346del
NM_001142269.3:c.1033_1038del	NP_001135741.1:p.Met345_Val346del
XM_005264259.3:c.1204_1209del	XP_005264316.1:p.Met402_Val403del
XM_011532764.1:c.382_387del	XP_011531066.1:p.Met128_Val129del
XM_011532765.1:c.382_387del	XP_011531067.1:p.Met128_Val129del
XR_939677.1:n.1269_1274del
XM_005264259.5:c.1204_1209del	XP_005264316.1:p.Met402_Val403del
XM_011532764.3:c.382_387del	XP_011531066.1:p.Met128_Val129del
XM_011532765.3:c.382_387del	XP_011531067.1:p.Met128_Val129del
XM_017003803.2:c.1033_1038del	XP_016859292.1:p.Met345_Val346del
XR_001738703.2:n.1269_1274del
NM_000821.7:c.1204_1209del MANE Select	NP_000812.2:p.Met402_Val403del
NM_001142269.4:c.1033_1038del	NP_001135741.1:p.Met345_Val346del