Canonical Allele Identifier: CA894035020
Gene: GGCX HGNC NCBI

Linked Data

dbSNP Id: rs1183729361
gnomAD v3: 2-85546601-TCAGGAGGCTGGAGAATCACTTGAACC-T
gnomAD v4: 2-85546601-TCAGGAGGCTGGAGAATCACTTGAACC-T
MyVariant Identifiers: chr2:g.85773725_85773750del (hg19) chr2:g.85546602_85546627del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85546610_85546635del , CM000664.2:g.85546610_85546635del GRCh38
NC_000002.11:g.85773733_85773758del , CM000664.1:g.85773733_85773758del GRCh37
NC_000002.10:g.85627244_85627269del NCBI36
NG_011811.2:g.19908_19933del
NG_029183.1:g.12633_12658del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233838.9:c.*3307_*3332del MANE Select ENSP00000233838.3:n.*3307_*3332del
ENST00000233838.8:c.*3307_*3332del ENSP00000233838.3:n.*3307_*3332del
NM_000821.5:c.*3307_*3332del NP_000812.2:n.*3307_*3332del
NM_000821.6:c.*3307_*3332del NP_000812.2:n.*3307_*3332del
NM_001142269.2:c.*3307_*3332del NP_001135741.1:n.*3307_*3332del
NM_001142269.3:c.*3307_*3332del NP_001135741.1:n.*3307_*3332del
NM_000821.7:c.*3307_*3332del MANE Select NP_000812.2:n.*3307_*3332del
NM_001142269.4:c.*3307_*3332del NP_001135741.1:n.*3307_*3332del
Search 100 bp 5'
Search 100 bp 3'