Canonical Allele Identifier: CA894034992

Gene: GGCX

Linked Data

• dbSNP Id: rs1358670591
• gnomAD v3: 2-85546541-GTC-G
• gnomAD v4: 2-85546541-GTC-G
• MyVariant Identifiers: chr2:g.85773665_85773666del (hg19) ; chr2:g.85546542_85546543del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85546545_85546546del , CM000664.2:g.85546545_85546546del	GRCh38
NC_000002.11:g.85773668_85773669del , CM000664.1:g.85773668_85773669del	GRCh37
NC_000002.10:g.85627179_85627180del	NCBI36
NG_011811.2:g.19992_19993del
NG_029183.1:g.12568_12569del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233838.9:c.*3391_*3392del MANE Select	ENSP00000233838.3:n.*3391_*3392del
ENST00000233838.8:c.*3391_*3392del	ENSP00000233838.3:n.*3391_*3392del
NM_000821.5:c.*3391_*3392del	NP_000812.2:n.*3391_*3392del
NM_000821.6:c.*3391_*3392del	NP_000812.2:n.*3391_*3392del
NM_001142269.2:c.*3391_*3392del	NP_001135741.1:n.*3391_*3392del
NM_001142269.3:c.*3391_*3392del	NP_001135741.1:n.*3391_*3392del
NM_000821.7:c.*3391_*3392del MANE Select	NP_000812.2:n.*3391_*3392del
NM_001142269.4:c.*3391_*3392del	NP_001135741.1:n.*3391_*3392del