Canonical Allele Identifier: CA1033077967

Gene: GGCX

Linked Data

• dbSNP Id: rs1691661892
• gnomAD v3: 2-85546315-CAGG-C
• gnomAD v4: 2-85546315-CAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85546319_85546321del , CM000664.2:g.85546319_85546321del	GRCh38
NC_000002.11:g.85773442_85773444del , CM000664.1:g.85773442_85773444del	GRCh37
NC_000002.10:g.85626953_85626955del	NCBI36
NG_011811.2:g.20217_20219del
NG_029183.1:g.12342_12344del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233838.9:c.*3616_*3618del MANE Select	ENSP00000233838.3:n.*3616_*3618del
ENST00000233838.8:c.*3616_*3618del	ENSP00000233838.3:n.*3616_*3618del
NM_000821.5:c.*3616_*3618del	NP_000812.2:n.*3616_*3618del
NM_000821.6:c.*3616_*3618del	NP_000812.2:n.*3616_*3618del
NM_001142269.2:c.*3616_*3618del	NP_001135741.1:n.*3616_*3618del
NM_001142269.3:c.*3616_*3618del	NP_001135741.1:n.*3616_*3618del
NM_000821.7:c.*3616_*3618del MANE Select	NP_000812.2:n.*3616_*3618del
NM_001142269.4:c.*3616_*3618del	NP_001135741.1:n.*3616_*3618del