Canonical Allele Identifier: CA894044136

Gene: GGCX

Linked Data

• dbSNP Id: rs1275640378
• gnomAD v4: 2-85558903-ACAGTTCC-A
• MyVariant Identifiers: chr2:g.85786027_85786033del (hg19) ; chr2:g.85558904_85558910del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85558905_85558911del , CM000664.2:g.85558905_85558911del	GRCh38
NC_000002.11:g.85786028_85786034del , CM000664.1:g.85786028_85786034del	GRCh37
NC_000002.10:g.85639539_85639545del	NCBI36
NG_011811.2:g.7625_7631del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.166_172del
ENST00000482662.2:n.411+36_411+42del
ENST00000496962.2:c.380_386del	ENSP00000508856.1:p.Gly127ValfsTer18
ENST00000685865.1:n.472_478del
ENST00000687250.1:n.476+7_476+13del
ENST00000687995.1:n.421_427del
ENST00000688205.1:c.373+7_373+13del	ENSP00000509673.1:n.373+7_373+13del
ENST00000688788.1:n.472_478del
ENST00000689276.1:c.344+36_344+42del	ENSP00000510012.1:n.344+36_344+42del
ENST00000689576.1:c.373+7_373+13del	ENSP00000508712.1:n.373+7_373+13del
ENST00000690108.1:c.344+36_344+42del	ENSP00000510617.1:n.344+36_344+42del
ENST00000690468.1:c.173+36_173+42del	ENSP00000509078.1:n.173+36_173+42del
ENST00000690595.1:c.214+1905_214+1911del	ENSP00000508979.1:n.214+1905_214+1911del
ENST00000691348.1:c.202+7_202+13del	ENSP00000509369.1:n.202+7_202+13del
ENST00000691410.1:c.344+36_344+42del	ENSP00000508479.1:n.344+36_344+42del
ENST00000693287.1:c.-67+2476_-67+2482del	ENSP00000510264.1:n.-67+2476_-67+2482del
ENST00000693681.1:c.202+7_202+13del	ENSP00000510789.1:n.202+7_202+13del
ENST00000233838.9:c.373+7_373+13del MANE Select	ENSP00000233838.3:n.373+7_373+13del
ENST00000233838.8:c.373+7_373+13del	ENSP00000233838.3:n.373+7_373+13del
ENST00000421496.5:c.173+36_173+42del	ENSP00000400384.1:n.173+36_173+42del
ENST00000423570.5:c.344+36_344+42del	ENSP00000389426.1:n.344+36_344+42del
ENST00000428479.3:c.202+7_202+13del	ENSP00000390748.3:n.202+7_202+13del
ENST00000430215.7:c.202+7_202+13del	ENSP00000408045.3:n.202+7_202+13del
ENST00000465637.5:n.178+96_178+102del
ENST00000481541.1:n.274_280del
ENST00000496962.1:n.499_505del
NM_000821.5:c.373+7_373+13del	NP_000812.2:n.373+7_373+13del
NM_000821.6:c.373+7_373+13del	NP_000812.2:n.373+7_373+13del
NM_001142269.2:c.202+7_202+13del	NP_001135741.1:n.202+7_202+13del
NM_001142269.3:c.202+7_202+13del	NP_001135741.1:n.202+7_202+13del
NM_001311312.1:c.380_386del	NP_001298241.1:p.Gly127ValfsTer18
XM_005264259.3:c.373+7_373+13del	XP_005264316.1:n.373+7_373+13del
XM_011532764.1:c.-286+7_-286+13del	XP_011531066.1:n.-286+7_-286+13del
XM_011532765.1:c.-286+7_-286+13del	XP_011531067.1:n.-286+7_-286+13del
XR_939677.1:n.438+7_438+13del
XM_005264259.5:c.373+7_373+13del	XP_005264316.1:n.373+7_373+13del
XM_011532764.3:c.-286+7_-286+13del	XP_011531066.1:n.-286+7_-286+13del
XM_011532765.3:c.-286+7_-286+13del	XP_011531067.1:n.-286+7_-286+13del
XM_017003803.2:c.202+7_202+13del	XP_016859292.1:n.202+7_202+13del
XR_001738703.2:n.438+7_438+13del
NM_000821.7:c.373+7_373+13del MANE Select	NP_000812.2:n.373+7_373+13del
NM_001142269.4:c.202+7_202+13del	NP_001135741.1:n.202+7_202+13del
NM_001311312.2:c.380_386del	NP_001298241.1:p.Gly127ValfsTer18