Canonical Allele Identifier: CA534171881

Gene: GGCX

Linked Data

• dbSNP Id: rs1264311373
• gnomAD v2: 2-85773502-TGCCACCACACTCCG-T
• gnomAD v3: 2-85546379-TGCCACCACACTCCG-T
• gnomAD v4: 2-85546379-TGCCACCACACTCCG-T
• MyVariant Identifiers: chr2:g.85773503_85773516del (hg19) ; chr2:g.85546380_85546393del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85546384_85546397del , CM000664.2:g.85546384_85546397del	GRCh38
NC_000002.11:g.85773507_85773520del , CM000664.1:g.85773507_85773520del	GRCh37
NC_000002.10:g.85627018_85627031del	NCBI36
NG_011811.2:g.20142_20155del
NG_029183.1:g.12407_12420del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233838.9:c.*3541_*3554del MANE Select	ENSP00000233838.3:n.*3541_*3554del
ENST00000233838.8:c.*3541_*3554del	ENSP00000233838.3:n.*3541_*3554del
NM_000821.5:c.*3541_*3554del	NP_000812.2:n.*3541_*3554del
NM_000821.6:c.*3541_*3554del	NP_000812.2:n.*3541_*3554del
NM_001142269.2:c.*3541_*3554del	NP_001135741.1:n.*3541_*3554del
NM_001142269.3:c.*3541_*3554del	NP_001135741.1:n.*3541_*3554del
NM_000821.7:c.*3541_*3554del MANE Select	NP_000812.2:n.*3541_*3554del
NM_001142269.4:c.*3541_*3554del	NP_001135741.1:n.*3541_*3554del