Canonical Allele Identifier: CA1266821048
Gene: GGCX HGNC NCBI

Linked Data

dbSNP Id: rs1691676586
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85546575_85546577del , CM000664.2:g.85546575_85546577del GRCh38
NC_000002.11:g.85773698_85773700del , CM000664.1:g.85773698_85773700del GRCh37
NC_000002.10:g.85627209_85627211del NCBI36
NG_011811.2:g.19962_19964del
NG_029183.1:g.12598_12600del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233838.9:c.*3361_*3363del MANE Select ENSP00000233838.3:n.*3361_*3363del
ENST00000233838.8:c.*3361_*3363del ENSP00000233838.3:n.*3361_*3363del
NM_000821.5:c.*3361_*3363del NP_000812.2:n.*3361_*3363del
NM_000821.6:c.*3361_*3363del NP_000812.2:n.*3361_*3363del
NM_001142269.2:c.*3361_*3363del NP_001135741.1:n.*3361_*3363del
NM_001142269.3:c.*3361_*3363del NP_001135741.1:n.*3361_*3363del
NM_000821.7:c.*3361_*3363del MANE Select NP_000812.2:n.*3361_*3363del
NM_001142269.4:c.*3361_*3363del NP_001135741.1:n.*3361_*3363del
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