Canonical Allele Identifier: CA10614499
Gene: GGCX HGNC NCBI

Linked Data

ClinVar Variation Id: 337212
ClinVar RCV Id: RCV000290864
dbSNP Id: rs781598536
gnomAD v3: 2-85547039-GTGT-G
gnomAD v4: 2-85547039-GTGT-G
MyVariant Identifiers: chr2:g.85774163_85774165del (hg19) chr2:g.85547040_85547042del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85547043_85547045del , CM000664.2:g.85547043_85547045del GRCh38
NC_000002.11:g.85774166_85774168del , CM000664.1:g.85774166_85774168del GRCh37
NC_000002.10:g.85627677_85627679del NCBI36
NG_011811.2:g.19493_19495del
NG_029183.1:g.13066_13068del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233838.9:c.*2892_*2894del MANE Select ENSP00000233838.3:n.*2892_*2894del
ENST00000233838.8:c.*2892_*2894del ENSP00000233838.3:n.*2892_*2894del
NM_000821.5:c.*2892_*2894del NP_000812.2:n.*2892_*2894del
NM_000821.6:c.*2892_*2894del NP_000812.2:n.*2892_*2894del
NM_001142269.2:c.*2892_*2894del NP_001135741.1:n.*2892_*2894del
NM_001142269.3:c.*2892_*2894del NP_001135741.1:n.*2892_*2894del
NM_000821.7:c.*2892_*2894del MANE Select NP_000812.2:n.*2892_*2894del
NM_001142269.4:c.*2892_*2894del NP_001135741.1:n.*2892_*2894del
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Search 100 bp 3'