Canonical Allele Identifier: CA51729487
Gene: GGCX HGNC NCBI

Linked Data

dbSNP Id: rs11415157
gnomAD v2: 2-85773539-TAAAA-T
gnomAD v3: 2-85546416-TAAAA-T
gnomAD v4: 2-85546416-TAAAA-T
MyVariant Identifiers: chr2:g.85773541_85773544del (hg19) chr2:g.85773540_85773543del (hg19) chr2:g.85546418_85546421del (hg38) chr2:g.85546417_85546420del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85546422_85546425del , CM000664.2:g.85546422_85546425del GRCh38
NC_000002.11:g.85773545_85773548del , CM000664.1:g.85773545_85773548del GRCh37
NC_000002.10:g.85627056_85627059del NCBI36
NG_011811.2:g.20115_20118del
NG_029183.1:g.12445_12448del

Transcript Alleles

HGVS Amino-acid change
ENST00000233838.9:c.*3514_*3517del MANE Select ENSP00000233838.3:n.*3514_*3517del
ENST00000233838.8:c.*3514_*3517del ENSP00000233838.3:n.*3514_*3517del
NM_000821.5:c.*3514_*3517del NP_000812.2:n.*3514_*3517del
NM_000821.6:c.*3514_*3517del NP_000812.2:n.*3514_*3517del
NM_001142269.2:c.*3514_*3517del NP_001135741.1:n.*3514_*3517del
NM_001142269.3:c.*3514_*3517del NP_001135741.1:n.*3514_*3517del
NM_000821.7:c.*3514_*3517del MANE Select NP_000812.2:n.*3514_*3517del
NM_001142269.4:c.*3514_*3517del NP_001135741.1:n.*3514_*3517del
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