Canonical Allele Identifier: CA51729360

Gene: GGCX

Linked Data

• dbSNP Id: rs947339536
• gnomAD v2: 2-85773503-GCCACCACACT-G
• gnomAD v3: 2-85546380-GCCACCACACT-G
• gnomAD v4: 2-85546380-GCCACCACACT-G
• MyVariant Identifiers: chr2:g.85773504_85773513del (hg19) ; chr2:g.85546381_85546390del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85546383_85546392del , CM000664.2:g.85546383_85546392del	GRCh38
NC_000002.11:g.85773506_85773515del , CM000664.1:g.85773506_85773515del	GRCh37
NC_000002.10:g.85627017_85627026del	NCBI36
NG_011811.2:g.20145_20154del
NG_029183.1:g.12406_12415del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233838.9:c.*3544_*3553del MANE Select	ENSP00000233838.3:n.*3544_*3553del
ENST00000233838.8:c.*3544_*3553del	ENSP00000233838.3:n.*3544_*3553del
NM_000821.5:c.*3544_*3553del	NP_000812.2:n.*3544_*3553del
NM_000821.6:c.*3544_*3553del	NP_000812.2:n.*3544_*3553del
NM_001142269.2:c.*3544_*3553del	NP_001135741.1:n.*3544_*3553del
NM_001142269.3:c.*3544_*3553del	NP_001135741.1:n.*3544_*3553del
NM_000821.7:c.*3544_*3553del MANE Select	NP_000812.2:n.*3544_*3553del
NM_001142269.4:c.*3544_*3553del	NP_001135741.1:n.*3544_*3553del