Canonical Allele Identifier: CA1741896

Gene: GGCX

Linked Data

• dbSNP Id: rs762578582
• ExAC: 2:85780180 CA / C
• gnomAD v2: 2-85780180-CA-C
• gnomAD v4: 2-85553057-CA-C
• MyVariant Identifiers: chr2:g.85780181del (hg19) ; chr2:g.85553058del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553058del , CM000664.2:g.85553058del	GRCh38
NC_000002.11:g.85780181del , CM000664.1:g.85780181del	GRCh37
NC_000002.10:g.85633692del	NCBI36
NG_011811.2:g.13477del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5212del
ENST00000482662.2:n.3619del
ENST00000685865.1:n.1571del
ENST00000687250.1:n.1271del
ENST00000687995.1:n.1520del
ENST00000688205.1:c.*761del	ENSP00000509673.1:n.*761del
ENST00000688788.1:n.1407del
ENST00000689276.1:c.1099del	ENSP00000510012.1:p.Trp367GlyfsTer12
ENST00000689576.1:c.1168del	ENSP00000508712.1:p.Trp390GlyfsTer12
ENST00000690108.1:c.*824del	ENSP00000510617.1:n.*824del
ENST00000690468.1:c.889del	ENSP00000509078.1:p.Trp297GlyfsTer12
ENST00000690595.1:c.493del	ENSP00000508979.1:p.Trp165GlyfsTer12
ENST00000691348.1:c.997del	ENSP00000509369.1:p.Trp333GlyfsTer12
ENST00000691410.1:c.*745del	ENSP00000508479.1:n.*745del
ENST00000693287.1:c.484del	ENSP00000510264.1:p.Trp162GlyfsTer12
ENST00000693681.1:c.481del	ENSP00000510789.1:p.Trp161GlyfsTer12
ENST00000233838.9:c.1168del MANE Select	ENSP00000233838.3:p.Trp390GlyfsTer12
ENST00000233838.8:c.1168del	ENSP00000233838.3:p.Trp390GlyfsTer12
ENST00000430215.7:c.997del	ENSP00000408045.3:p.Trp333GlyfsTer12
ENST00000465637.5:n.179-5054del
ENST00000473665.1:n.661del
ENST00000482662.1:n.585del
NM_000821.5:c.1168del	NP_000812.2:p.Trp390GlyfsTer12
NM_000821.6:c.1168del	NP_000812.2:p.Trp390GlyfsTer12
NM_001142269.2:c.997del	NP_001135741.1:p.Trp333GlyfsTer12
NM_001142269.3:c.997del	NP_001135741.1:p.Trp333GlyfsTer12
XM_005264259.3:c.1168del	XP_005264316.1:p.Trp390GlyfsTer12
XM_011532764.1:c.346del	XP_011531066.1:p.Trp116GlyfsTer12
XM_011532765.1:c.346del	XP_011531067.1:p.Trp116GlyfsTer12
XR_939677.1:n.1233del
XM_005264259.5:c.1168del	XP_005264316.1:p.Trp390GlyfsTer12
XM_011532764.3:c.346del	XP_011531066.1:p.Trp116GlyfsTer12
XM_011532765.3:c.346del	XP_011531067.1:p.Trp116GlyfsTer12
XM_017003803.2:c.997del	XP_016859292.1:p.Trp333GlyfsTer12
XR_001738703.2:n.1233del
NM_000821.7:c.1168del MANE Select	NP_000812.2:p.Trp390GlyfsTer12
NM_001142269.4:c.997del	NP_001135741.1:p.Trp333GlyfsTer12