Canonical Allele Identifier: CA894035307

Gene: GGCX

Linked Data

• dbSNP Id: rs1164139683
• gnomAD v3: 2-85546945-GT-G
• gnomAD v4: 2-85546945-GT-G
• MyVariant Identifiers: chr2:g.85774069del (hg19) ; chr2:g.85546946del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85546949del , CM000664.2:g.85546949del	GRCh38
NC_000002.11:g.85774072del , CM000664.1:g.85774072del	GRCh37
NC_000002.10:g.85627583del	NCBI36
NG_011811.2:g.19589del
NG_029183.1:g.12972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233838.9:c.*2988del MANE Select	ENSP00000233838.3:n.*2988del
ENST00000233838.8:c.*2988del	ENSP00000233838.3:n.*2988del
NM_000821.5:c.*2988del	NP_000812.2:n.*2988del
NM_000821.6:c.*2988del	NP_000812.2:n.*2988del
NM_001142269.2:c.*2988del	NP_001135741.1:n.*2988del
NM_001142269.3:c.*2988del	NP_001135741.1:n.*2988del
NM_000821.7:c.*2988del MANE Select	NP_000812.2:n.*2988del
NM_001142269.4:c.*2988del	NP_001135741.1:n.*2988del