Canonical Allele Identifier: CA2659852411
Gene: GGCX HGNC NCBI

Linked Data

gnomAD v4: 2-85546307-CAG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85546308_85546309del , CM000664.2:g.85546308_85546309del GRCh38
NC_000002.11:g.85773431_85773432del , CM000664.1:g.85773431_85773432del GRCh37
NC_000002.10:g.85626942_85626943del NCBI36
NG_011811.2:g.20226_20227del
NG_029183.1:g.12331_12332del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233838.9:c.*3625_*3626del MANE Select ENSP00000233838.3:n.*3625_*3626del
ENST00000233838.8:c.*3625_*3626del ENSP00000233838.3:n.*3625_*3626del
NM_000821.5:c.*3625_*3626del NP_000812.2:n.*3625_*3626del
NM_000821.6:c.*3625_*3626del NP_000812.2:n.*3625_*3626del
NM_001142269.2:c.*3625_*3626del NP_001135741.1:n.*3625_*3626del
NM_001142269.3:c.*3625_*3626del NP_001135741.1:n.*3625_*3626del
NM_000821.7:c.*3625_*3626del MANE Select NP_000812.2:n.*3625_*3626del
NM_001142269.4:c.*3625_*3626del NP_001135741.1:n.*3625_*3626del
Search 100 bp 5'
Search 100 bp 3'