Canonical Allele Identifier: CA894034278
Gene: GGCX HGNC NCBI

Linked Data

dbSNP Id: rs1285545258
gnomAD v3: 2-85545879-CAG-C
gnomAD v4: 2-85545879-CAG-C
MyVariant Identifiers: chr2:g.85773003_85773004del (hg19) chr2:g.85545880_85545881del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85545883_85545884del , CM000664.2:g.85545883_85545884del GRCh38
NC_000002.11:g.85773006_85773007del , CM000664.1:g.85773006_85773007del GRCh37
NC_000002.10:g.85626517_85626518del NCBI36
NG_011811.2:g.20654_20655del
NG_029183.1:g.11906_11907del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233838.9:c.*4053_*4054del MANE Select ENSP00000233838.3:n.*4053_*4054del
ENST00000233838.8:c.*4053_*4054del ENSP00000233838.3:n.*4053_*4054del
NM_000821.5:c.*4053_*4054del NP_000812.2:n.*4053_*4054del
NM_000821.6:c.*4053_*4054del NP_000812.2:n.*4053_*4054del
NM_001142269.2:c.*4053_*4054del NP_001135741.1:n.*4053_*4054del
NM_001142269.3:c.*4053_*4054del NP_001135741.1:n.*4053_*4054del
NM_000821.7:c.*4053_*4054del MANE Select NP_000812.2:n.*4053_*4054del
NM_001142269.4:c.*4053_*4054del NP_001135741.1:n.*4053_*4054del
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Search 100 bp 3'