Canonical Allele Identifier: CA10614025
Gene: GGCX HGNC NCBI

Linked Data

ClinVar Variation Id: 337198
ClinVar RCV Id: RCV000288298
dbSNP Id: rs11415157
gnomAD v2: 2-85773539-T-TAA
gnomAD v3: 2-85546416-T-TAA
gnomAD v4: 2-85546416-T-TAA
MyVariant Identifiers: chr2:g.85773540_85773541dupAA (hg19) chr2:g.85773544_85773545insAA (hg19) chr2:g.85773539_85773540insAA (hg19) chr2:g.85546417_85546418dupAA (hg38) chr2:g.85546421_85546422insAA (hg38) chr2:g.85546416_85546417insAA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85546424_85546425dup , CM000664.2:g.85546424_85546425dup GRCh38
NC_000002.11:g.85773547_85773548dup , CM000664.1:g.85773547_85773548dup GRCh37
NC_000002.10:g.85627058_85627059dup NCBI36
NG_011811.2:g.20117_20118dup
NG_029183.1:g.12447_12448dup

Transcript Alleles

HGVS Amino-acid change
ENST00000233838.9:c.*3516_*3517dup MANE Select ENSP00000233838.3:n.*3516_*3517dup
ENST00000233838.8:c.*3516_*3517dup ENSP00000233838.3:n.*3516_*3517dup
NM_000821.5:c.*3516_*3517dup NP_000812.2:n.*3516_*3517dup
NM_000821.6:c.*3516_*3517dup NP_000812.2:n.*3516_*3517dup
NM_001142269.2:c.*3516_*3517dup NP_001135741.1:n.*3516_*3517dup
NM_001142269.3:c.*3516_*3517dup NP_001135741.1:n.*3516_*3517dup
NM_000821.7:c.*3516_*3517dup MANE Select NP_000812.2:n.*3516_*3517dup
NM_001142269.4:c.*3516_*3517dup NP_001135741.1:n.*3516_*3517dup
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Search 100 bp 3'