Canonical Allele Identifier: CA2659854592

Gene: GGCX

Linked Data

• gnomAD v4: 2-85553388-G-GAGGGGCTGCCTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553394_85553395insTGCCTTTAGGGGC , CM000664.2:g.85553394_85553395insTGCCTTTAGGGGC	GRCh38
NC_000002.11:g.85780517_85780518insTGCCTTTAGGGGC , CM000664.1:g.85780517_85780518insTGCCTTTAGGGGC	GRCh37
NC_000002.10:g.85634028_85634029insTGCCTTTAGGGGC	NCBI36
NG_011811.2:g.13146_13147insAAAGGCAGCCCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000473665.2:n.5042_5043insAAAGGCAGCCCCT
ENST00000482662.2:n.3449_3450insAAAGGCAGCCCCT
ENST00000685865.1:n.1401_1402insAAAGGCAGCCCCT
ENST00000687250.1:n.1101_1102insAAAGGCAGCCCCT
ENST00000687995.1:n.1350_1351insAAAGGCAGCCCCT
ENST00000688205.1:c.*591_*592insAAAGGCAGCCCCT	ENSP00000509673.1:n.*591_*592insAAAGGCAGC...
ENST00000688788.1:n.1237_1238insAAAGGCAGCCCCT
ENST00000689276.1:c.929_930insAAAGGCAGCCCCT	ENSP00000510012.1:p.Pro316GlyfsTer12
ENST00000689576.1:c.998_999insAAAGGCAGCCCCT	ENSP00000508712.1:p.Pro339GlyfsTer12
ENST00000690108.1:c.*654_*655insAAAGGCAGCCCCT	ENSP00000510617.1:n.*654_*655insAAAGGCAGC...
ENST00000690468.1:c.719_720insAAAGGCAGCCCCT	ENSP00000509078.1:p.Pro246GlyfsTer12
ENST00000690595.1:c.323_324insAAAGGCAGCCCCT	ENSP00000508979.1:p.Pro114GlyfsTer12
ENST00000691348.1:c.827_828insAAAGGCAGCCCCT	ENSP00000509369.1:p.Pro282GlyfsTer12
ENST00000691410.1:c.*575_*576insAAAGGCAGCCCCT	ENSP00000508479.1:n.*575_*576insAAAGGCAGC...
ENST00000693287.1:c.314_315insAAAGGCAGCCCCT	ENSP00000510264.1:p.Pro111GlyfsTer12
ENST00000693681.1:c.311_312insAAAGGCAGCCCCT	ENSP00000510789.1:p.Pro110GlyfsTer12
ENST00000233838.9:c.998_999insAAAGGCAGCCCCT MANE Select	ENSP00000233838.3:p.Pro339GlyfsTer12
ENST00000233838.8:c.998_999insAAAGGCAGCCCCT	ENSP00000233838.3:p.Pro339GlyfsTer12
ENST00000430215.7:c.827_828insAAAGGCAGCCCCT	ENSP00000408045.3:p.Pro282GlyfsTer12
ENST00000465637.5:n.179-5385_179-5384insAAAGGCAGCCCCT
ENST00000473665.1:n.491_492insAAAGGCAGCCCCT
ENST00000482662.1:n.415_416insAAAGGCAGCCCCT
NM_000821.5:c.998_999insAAAGGCAGCCCCT	NP_000812.2:p.Pro339GlyfsTer12
NM_000821.6:c.998_999insAAAGGCAGCCCCT	NP_000812.2:p.Pro339GlyfsTer12
NM_001142269.2:c.827_828insAAAGGCAGCCCCT	NP_001135741.1:p.Pro282GlyfsTer12
NM_001142269.3:c.827_828insAAAGGCAGCCCCT	NP_001135741.1:p.Pro282GlyfsTer12
XM_005264259.3:c.998_999insAAAGGCAGCCCCT	XP_005264316.1:p.Pro339GlyfsTer12
XM_011532764.1:c.176_177insAAAGGCAGCCCCT	XP_011531066.1:p.Pro65GlyfsTer12
XM_011532765.1:c.176_177insAAAGGCAGCCCCT	XP_011531067.1:p.Pro65GlyfsTer12
XR_939677.1:n.1063_1064insAAAGGCAGCCCCT
XM_005264259.5:c.998_999insAAAGGCAGCCCCT	XP_005264316.1:p.Pro339GlyfsTer12
XM_011532764.3:c.176_177insAAAGGCAGCCCCT	XP_011531066.1:p.Pro65GlyfsTer12
XM_011532765.3:c.176_177insAAAGGCAGCCCCT	XP_011531067.1:p.Pro65GlyfsTer12
XM_017003803.2:c.827_828insAAAGGCAGCCCCT	XP_016859292.1:p.Pro282GlyfsTer12
XR_001738703.2:n.1063_1064insAAAGGCAGCCCCT
NM_000821.7:c.998_999insAAAGGCAGCCCCT MANE Select	NP_000812.2:p.Pro339GlyfsTer12
NM_001142269.4:c.827_828insAAAGGCAGCCCCT	NP_001135741.1:p.Pro282GlyfsTer12