Canonical Allele Identifier: CA1266820518
Gene: GGCX HGNC NCBI

Linked Data

dbSNP Id: rs1691661570

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85546313_85546316del , CM000664.2:g.85546313_85546316del GRCh38
NC_000002.11:g.85773436_85773439del , CM000664.1:g.85773436_85773439del GRCh37
NC_000002.10:g.85626947_85626950del NCBI36
NG_011811.2:g.20220_20223del
NG_029183.1:g.12336_12339del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233838.9:c.*3619_*3622del MANE Select ENSP00000233838.3:n.*3619_*3622del
ENST00000233838.8:c.*3619_*3622del ENSP00000233838.3:n.*3619_*3622del
NM_000821.5:c.*3619_*3622del NP_000812.2:n.*3619_*3622del
NM_000821.6:c.*3619_*3622del NP_000812.2:n.*3619_*3622del
NM_001142269.2:c.*3619_*3622del NP_001135741.1:n.*3619_*3622del
NM_001142269.3:c.*3619_*3622del NP_001135741.1:n.*3619_*3622del
NM_000821.7:c.*3619_*3622del MANE Select NP_000812.2:n.*3619_*3622del
NM_001142269.4:c.*3619_*3622del NP_001135741.1:n.*3619_*3622del