Canonical Allele Identifier: CA51729449

Gene: GGCX

Linked Data

• dbSNP Id: rs577484842
• gnomAD v2: 2-85773533-GA-G
• gnomAD v3: 2-85546410-GA-G
• gnomAD v4: 2-85546410-GA-G
• MyVariant Identifiers: chr2:g.85773534del (hg19) ; chr2:g.85546411del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85546411del , CM000664.2:g.85546411del	GRCh38
NC_000002.11:g.85773534del , CM000664.1:g.85773534del	GRCh37
NC_000002.10:g.85627045del	NCBI36
NG_011811.2:g.20124del
NG_029183.1:g.12434del

Transcript Alleles

HGVS	Amino-acid change
ENST00000233838.9:c.*3523del MANE Select	ENSP00000233838.3:n.*3523del
ENST00000233838.8:c.*3523del	ENSP00000233838.3:n.*3523del
NM_000821.5:c.*3523del	NP_000812.2:n.*3523del
NM_000821.6:c.*3523del	NP_000812.2:n.*3523del
NM_001142269.2:c.*3523del	NP_001135741.1:n.*3523del
NM_001142269.3:c.*3523del	NP_001135741.1:n.*3523del
NM_000821.7:c.*3523del MANE Select	NP_000812.2:n.*3523del
NM_001142269.4:c.*3523del	NP_001135741.1:n.*3523del