Canonical Allele Identifier: CA894040569

Gene: GGCX

Linked Data

• dbSNP Id: rs1401785777
• gnomAD v4: 2-85553058-AGTT-A
• MyVariant Identifiers: chr2:g.85780182_85780184del (hg19) ; chr2:g.85553059_85553061del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553062_85553064del , CM000664.2:g.85553062_85553064del	GRCh38
NC_000002.11:g.85780185_85780187del , CM000664.1:g.85780185_85780187del	GRCh37
NC_000002.10:g.85633696_85633698del	NCBI36
NG_011811.2:g.13474_13476del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5209_5211del
ENST00000482662.2:n.3616_3618del
ENST00000685865.1:n.1568_1570del
ENST00000687250.1:n.1268_1270del
ENST00000687995.1:n.1517_1519del
ENST00000688205.1:c.*758_*760del	ENSP00000509673.1:n.*758_*760del
ENST00000688788.1:n.1404_1406del
ENST00000689276.1:c.1096_1098del	ENSP00000510012.1:p.Asn366del
ENST00000689576.1:c.1165_1167del	ENSP00000508712.1:p.Asn389del
ENST00000690108.1:c.*821_*823del	ENSP00000510617.1:n.*821_*823del
ENST00000690468.1:c.886_888del	ENSP00000509078.1:p.Asn296del
ENST00000690595.1:c.490_492del	ENSP00000508979.1:p.Asn164del
ENST00000691348.1:c.994_996del	ENSP00000509369.1:p.Asn332del
ENST00000691410.1:c.*742_*744del	ENSP00000508479.1:n.*742_*744del
ENST00000693287.1:c.481_483del	ENSP00000510264.1:p.Asn161del
ENST00000693681.1:c.478_480del	ENSP00000510789.1:p.Asn160del
ENST00000233838.9:c.1165_1167del MANE Select	ENSP00000233838.3:p.Asn389del
ENST00000233838.8:c.1165_1167del	ENSP00000233838.3:p.Asn389del
ENST00000430215.7:c.994_996del	ENSP00000408045.3:p.Asn332del
ENST00000465637.5:n.179-5057_179-5055del
ENST00000473665.1:n.658_660del
ENST00000482662.1:n.582_584del
NM_000821.5:c.1165_1167del	NP_000812.2:p.Asn389del
NM_000821.6:c.1165_1167del	NP_000812.2:p.Asn389del
NM_001142269.2:c.994_996del	NP_001135741.1:p.Asn332del
NM_001142269.3:c.994_996del	NP_001135741.1:p.Asn332del
XM_005264259.3:c.1165_1167del	XP_005264316.1:p.Asn389del
XM_011532764.1:c.343_345del	XP_011531066.1:p.Asn115del
XM_011532765.1:c.343_345del	XP_011531067.1:p.Asn115del
XR_939677.1:n.1230_1232del
XM_005264259.5:c.1165_1167del	XP_005264316.1:p.Asn389del
XM_011532764.3:c.343_345del	XP_011531066.1:p.Asn115del
XM_011532765.3:c.343_345del	XP_011531067.1:p.Asn115del
XM_017003803.2:c.994_996del	XP_016859292.1:p.Asn332del
XR_001738703.2:n.1230_1232del
NM_000821.7:c.1165_1167del MANE Select	NP_000812.2:p.Asn389del
NM_001142269.4:c.994_996del	NP_001135741.1:p.Asn332del